chr6:159692840:A>G Detail (hg38) (SOD2)

Information

Genome

Assembly Position
hg19 chr6:160,113,872-160,113,872 View the variant detail on this assembly version.
hg38 chr6:159,692,840-159,692,840

HGVS

Type Transcript Protein
RefSeq NM_001322814.1:c.47T>C NP_001309743.1:p.Val16Ala
NM_001024466.2:c.47T>C NP_001019637.1:p.Val16Ala
NM_001024465.2:c.47T>C NP_001019636.1:p.Val16Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.111
ToMMo:0.122
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.160

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity; risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 147460 OMIM
HGNC 11180 HGNC
Ensembl ENSG00000291237 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27685173 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2007-01-01 no assertion criteria provided SUPEROXIDE DISMUTASE 2 POLYMORPHISM germline Detail
Likely risk allele; risk factor 2007-01-01 no assertion criteria provided Microvascular complications of diabetes, susceptibility to, 6 germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.129 liver carcinoma Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, r... BeFree 21240526 Detail
0.017 liver carcinoma Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, r... BeFree 21240526 Detail
0.030 liver carcinoma Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, r... BeFree 21240526 Detail
<0.001 pancreatic carcinoma According to the assumption that genetic variation in carcinogen metabolism furt... BeFree 20966810 Detail
0.122 pancreatic carcinoma According to the assumption that genetic variation in carcinogen metabolism furt... BeFree 20966810 Detail
0.004 Malignant neoplasm of pancreas According to the assumption that genetic variation in carcinogen metabolism furt... BeFree 20966810 Detail
<0.001 Malignant neoplasm of pancreas According to the assumption that genetic variation in carcinogen metabolism furt... BeFree 20966810 Detail
<0.001 Stage IV Prostate Cancer AJCC v7 Seven interactions were statistically significant after adjusting for multiple t... BeFree 25315963 Detail
<0.001 Stage IV Prostate Cancer AJCC v7 Seven interactions were statistically significant after adjusting for multiple t... BeFree 25315963 Detail
<0.001 Stage IV Prostate Cancer AJCC v7 Seven interactions were statistically significant after adjusting for multiple t... BeFree 25315963 Detail
<0.001 Stage IV Prostate Carcinoma Seven interactions were statistically significant after adjusting for multiple t... BeFree 25315963 Detail
<0.001 Stage IV Prostate Carcinoma Seven interactions were statistically significant after adjusting for multiple t... BeFree 25315963 Detail
<0.001 Stage IV Prostate Carcinoma Seven interactions were statistically significant after adjusting for multiple t... BeFree 25315963 Detail
0.005 prostate carcinoma A high tertile selenium level in combination with non-wt rs125701 of the OGG1 ge... BeFree 21982398 Detail
0.045 Malignant neoplasm of prostate A high tertile selenium level in combination with non-wt rs125701 of the OGG1 ge... BeFree 21982398 Detail
0.004 prostate carcinoma A high tertile selenium level in combination with non-wt rs125701 of the OGG1 ge... BeFree 21982398 Detail
0.020 Malignant neoplasm of prostate A high tertile selenium level in combination with non-wt rs125701 of the OGG1 ge... BeFree 21982398 Detail
<0.001 Secondary malignant neoplasm of lymph node The SOD2 rs4880 CT + CC genotypes were significantly associated with a high leve... BeFree 22517484 Detail
0.001 Secondary malignant neoplasm of lymph node The SOD2 rs4880 CT + CC genotypes were significantly associated with a high leve... BeFree 22517484 Detail
<0.001 Tumor Progression The current data, based on a large cohort (n = 929) of Chinese patients with gas... BeFree 22517484 Detail
0.001 Tumor Progression The current data, based on a large cohort (n = 929) of Chinese patients with gas... BeFree 22517484 Detail
0.007 Diabetes Mellitus, Non-Insulin-Dependent To evaluate whether the genetic polymorphisms of glutathione S-transferases M1 (... BeFree 24685594 Detail
<0.001 Carotid Atherosclerosis The aim of the present study was to test the association between genetic polymor... BeFree 22330623 Detail
0.143 Diabetes Mellitus, Non-Insulin-Dependent The aim of the present study was to test the association between genetic polymor... BeFree 22330623 Detail
0.007 Diabetes Mellitus, Non-Insulin-Dependent The aim of the present study was to test the association between genetic polymor... BeFree 22330623 Detail
0.143 Diabetes Mellitus, Non-Insulin-Dependent To evaluate whether the genetic polymorphisms of glutathione S-transferases M1 (... BeFree 24685594 Detail
<0.001 B-Cell Lymphomas In an analysis of manganese superoxide dismutase (SOD2 Val16Ala, rs1799725) Ala/... BeFree 16543247 Detail
0.189 Cardiovascular Diseases We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males... BeFree 24933031 Detail
<0.001 Cardiovascular Diseases We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males... BeFree 24933031 Detail
0.008 Cardiovascular Diseases We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males... BeFree 24933031 Detail
0.027 Coronary heart disease We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males... BeFree 24933031 Detail
0.005 Coronary heart disease We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males... BeFree 24933031 Detail
<0.001 Cardiovascular Diseases We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males... BeFree 24933031 Detail
0.044 Coronary heart disease We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males... BeFree 24933031 Detail
0.125 Cardiovascular Diseases We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males... BeFree 24933031 Detail
0.003 Coronary heart disease We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males... BeFree 24933031 Detail
0.005 Coronary heart disease We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males... BeFree 24933031 Detail
0.010 Tardive Dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.013 Tardive Dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.010 lingual-facial-buccal dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.032 lingual-facial-buccal dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.016 Tardive Dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.013 lingual-facial-buccal dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.019 lingual-facial-buccal dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.006 lingual-facial-buccal dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.006 Tardive Dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.037 Tardive Dyskinesia Search for these determinants has led to a few consensus associations of CYP2D6 ... BeFree 18781856 Detail
0.003 Carcinoma of lung A review was conducted of 136 patients treated with radiation therapy for lung c... BeFree 22144047 Detail
0.022 Malignant neoplasm of lung A review was conducted of 136 patients treated with radiation therapy for lung c... BeFree 22144047 Detail
0.002 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.066 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.009 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.003 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.002 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.012 Carcinoma of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.012 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.092 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.022 Malignant neoplasm of lung However, only four of the previously reported associations with polymorphisms in... BeFree 18258609 Detail
0.001 Diabetes (i) to determine the extent of oxidative stress and DNA damage and repair using ... BeFree 21338322 Detail
0.440 obesity Association of the Ala16Val MnSOD gene polymorphism with plasma leptin levels an... BeFree 25958349 Detail
0.009 liver carcinoma No significant associations were observed between three other polymorphisms (MnS... BeFree 25894370 Detail
0.022 Malignant neoplasm of lung Although the majority of evidence supports associations between the SOD2 Ala16Va... BeFree 22525041 Detail
0.006 coronary artery disease Association of C47T polymorphism in SOD2 gene with coronary artery disease: a ca... BeFree 22170599 Detail
0.123 Liver Cirrhosis, Alcoholic Our aim was to determine whether Ala16Val-superoxide dismutase 2 (SOD2), G-463A-... BeFree 19731237 Detail
<0.001 Acute coronary syndrome The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency a... BeFree 21062213 Detail
0.074 Malignant neoplasm of breast We studied the possible association between Ala16Val manganese-dependent superox... BeFree 20082851 Detail
0.122 pancreatic carcinoma Polymorphisms of the inflammatory pathway genes MPO -G463A and SOD2 Ala16Val are... BeFree 18205184 Detail
0.001 ovarian carcinoma Functional variant of manganese superoxide dismutase (SOD2 V16A) polymorphism is... BeFree 17646272 Detail
0.005 Non-small cell lung carcinoma In this case-control study (830 non-small cell lung carcinoma (NSCLC) patients; ... BeFree 15331175 Detail
<0.001 Fibrosis, Liver The aim of the present study was to investigate the influence of MPO G-463A and ... BeFree 24882572 Detail
<0.001 lymphoma Data from two population-based, case-control studies of lymphoma in the UK (700 ... BeFree 16956821 Detail
0.010 breast carcinoma We studied the possible association between Ala16Val manganese-dependent superox... BeFree 20082851 Detail
0.143 Diabetes Mellitus, Non-Insulin-Dependent SOD2 gene Val16Ala polymorphism is associated with macroalbuminuria in Mexican t... BeFree 24119114 Detail
<0.001 lymphoma Data from two population-based, case-control studies of lymphoma in the UK (700 ... BeFree 16956821 Detail
0.045 Malignant neoplasm of prostate Functional variant of manganese superoxide dismutase (SOD2 V16A) polymorphism is... BeFree 17646272 Detail
0.003 Coronary Arteriosclerosis Association of C47T polymorphism in SOD2 gene with coronary artery disease: a ca... BeFree 22170599 Detail
0.074 Malignant neoplasm of breast No association between SOD2 Val16Ala polymorphism and breast cancer susceptibili... BeFree 20052533 Detail
<0.001 Malignant neoplasm of pancreas Polymorphisms of the inflammatory pathway genes MPO -G463A and SOD2 Ala16Val are... BeFree 18205184 Detail
0.123 Cardiomyopathy, Dilated The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency a... BeFree 21062213 Detail
0.003 Carcinoma of lung Association between SOD2 C47T polymorphism and lung cancer susceptibility: a met... BeFree 23990443 Detail
0.001 stomach carcinoma To investigate the association between MnSOD Val(16)Ala polymorphism and risk of... BeFree 20233853 Detail
<0.001 migraine with aura Is SOD2 Ala16Val polymorphism associated with migraine with aura phenotype? BeFree 25295643 Detail
0.005 Coronary heart disease Association of C47T polymorphism in SOD2 gene with coronary artery disease: a ca... BeFree 22170599 Detail
0.014 Diabetes Mellitus, Insulin-Dependent The V16A polymorphism in SOD2 is associated with increased risk of diabetic neph... BeFree 19834686 Detail
<0.001 Cardiovascular Diseases The V16A polymorphism in SOD2 is associated with increased risk of diabetic neph... BeFree 19834686 Detail
0.010 breast carcinoma Our findings suggest that the SOD2 Val16Ala variant is not related to the risk o... BeFree 21056286 Detail
<0.001 lymphoma Data from two population-based, case-control studies of lymphoma in the UK (700 ... BeFree 16956821 Detail
0.006 asthma To investigate the association of the manganese-containing form of SOD (MnSOD) g... BeFree 16630148 Detail
0.022 Malignant neoplasm of lung Association between SOD2 C47T polymorphism and lung cancer susceptibility: a met... BeFree 23990443 Detail
0.005 hepatitis C The aim of the present study was to investigate the influence of MPO G-463A and ... BeFree 24882572 Detail
<0.001 epilepsy The association between the superoxide dismutase 2 (SOD2) Val16Ala polymorphism ... BeFree 22119635 Detail
0.121 male infertility The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880)... BeFree 22206979 Detail
0.008 diabetic retinopathy A statistically significant association of MnSOD Ala16Val polymorphism with diab... BeFree 19628492 Detail
0.004 Malignant neoplasm of stomach To investigate the association between MnSOD Val(16)Ala polymorphism and risk of... BeFree 20233853 Detail
0.074 Malignant neoplasm of breast Lack of association between MnSOD Val16Ala polymorphism and breast cancer risk: ... BeFree 20143154 Detail
<0.001 pancreatic carcinoma Polymorphisms of the inflammatory pathway genes MPO -G463A and SOD2 Ala16Val are... BeFree 18205184 Detail
<0.001 Carcinogenesis The higher activity Ala variant at SOD2 Ex2+24T&gt;C (V16A), which has been hypo... BeFree 17646272 Detail
0.123 obesity Association of the Ala16Val MnSOD gene polymorphism with plasma leptin levels an... BeFree 25958349 Detail
0.011 Malignant neoplasm of ovary Functional variant of manganese superoxide dismutase (SOD2 V16A) polymorphism is... BeFree 17646272 Detail
<0.001 Fibrosis, Liver The aim of the present study was to investigate the influence of MPO G-463A and ... BeFree 24882572 Detail
0.074 Malignant neoplasm of breast Our findings suggest that the SOD2 Val16Ala variant is not related to the risk o... BeFree 21056286 Detail
0.010 breast carcinoma Lack of association between MnSOD Val16Ala polymorphism and breast cancer risk: ... BeFree 20143154 Detail
<0.001 Demyelinating Diseases We tested an SOD2 variant C47T (Ala16Val) associated with reduced enzymatic acti... BeFree 22218650 Detail
<0.001 epilepsy Our results showed that the SOD2 Val16Ala polymorphism has an impact on the rela... BeFree 25372290 Detail
<0.001 Hearing Loss, Mixed Conductive-Sensorineural SOD2 V16A SNP in the mitochondrial targeting sequence is associated with noise i... BeFree 20534900 Detail
0.123 male infertility The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880)... BeFree 22206979 Detail
0.009 liver carcinoma Our aim was to determine whether Ala16Val-superoxide dismutase 2 (SOD2), G-463A-... BeFree 19731237 Detail
0.014 age related macular degeneration We found no evidence to support the role of any common SOD2 variations including... BeFree 19753309 Detail
<0.001 Non-alcoholic Fatty Liver Disease The SOD2 C47T polymorphism influences NAFLD fibrosis severity: evidence from cas... BeFree 21756849 Detail
0.120 Acute coronary syndrome The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency a... BeFree 21062213 Detail
0.045 Malignant neoplasm of prostate To examine the association between 2 mitochondrial manganese superoxide dismutas... BeFree 19647296 Detail
0.121 Cardiomyopathy, Dilated The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency a... BeFree 21062213 Detail
0.005 prostate carcinoma To examine the association between 2 mitochondrial manganese superoxide dismutas... BeFree 19647296 Detail
<0.001 Malignant neoplasm of skin We assessed whether the functional V16A polymorphism in the MnSOD gene is associ... BeFree 17186424 Detail
<0.001 lymphoma Data from two population-based, case-control studies of lymphoma in the UK (700 ... BeFree 16956821 Detail
0.004 Malignant neoplasm of pancreas Polymorphisms of the inflammatory pathway genes MPO -G463A and SOD2 Ala16Val are... BeFree 18205184 Detail
0.128 Diabetic Nephropathy The V16A polymorphism in SOD2 is associated with increased risk of diabetic neph... BeFree 19834686 Detail
0.010 breast carcinoma No association between SOD2 Val16Ala polymorphism and breast cancer susceptibili... BeFree 20052533 Detail
0.005 prostate carcinoma Functional variant of manganese superoxide dismutase (SOD2 V16A) polymorphism is... BeFree 17646272 Detail
0.129 liver carcinoma No significant associations were observed between three other polymorphisms (MnS... BeFree 25894370 Detail
0.131 diabetes mellitus (i) to determine the extent of oxidative stress and DNA damage and repair using ... BeFree 21338322 Detail
0.045 Malignant neoplasm of prostate In the present study we investigated the association of a number of polymorphic ... BeFree 24610081 Detail
0.002 Carcinoma of lung We evaluated potential associations between gene variants that result in reduced... BeFree 17548672 Detail
0.004 prostate carcinoma In the present study we investigated the association of a number of polymorphic ... BeFree 24610081 Detail
0.003 Carcinoma of lung We evaluated potential associations between gene variants that result in reduced... BeFree 17548672 Detail
0.005 prostate carcinoma In the present study we investigated the association of a number of polymorphic ... BeFree 24610081 Detail
0.013 Malignant neoplasm of prostate In the present study we investigated the association of a number of polymorphic ... BeFree 24610081 Detail
0.087 Malignant neoplasm of prostate In the present study we investigated the association of a number of polymorphic ... BeFree 24610081 Detail
0.022 Malignant neoplasm of lung We evaluated potential associations between gene variants that result in reduced... BeFree 17548672 Detail
0.026 prostate carcinoma In the present study we investigated the association of a number of polymorphic ... BeFree 24610081 Detail
0.026 Malignant neoplasm of lung We evaluated potential associations between gene variants that result in reduced... BeFree 17548672 Detail
0.005 Coronary heart disease [Association between the rs4880 superoxide dismutase 2 (C>T) gene variant and co... GAD 20728955 Detail
<0.001 Septicemia Evaluating the subgroup of 293 ICU patients with sepsis, a pooled analysis inclu... BeFree 25497738 Detail
<0.001 Sepsis Evaluating the subgroup of 293 ICU patients with sepsis, a pooled analysis inclu... BeFree 25497738 Detail
<0.001 Hearing Loss, Mixed Conductive-Sensorineural The C allele of SOD2 (rs4880) was more frequent in Ménière's disease cases with ... BeFree 22877234 Detail
0.240 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 (finding) NA CLINVAR Detail
0.074 Malignant neoplasm of breast [Our results are consistent with the hypothesis that women with higher SOD2 anti... GAD 20309628 Detail
0.005 Diabetic Angiopathies [Association between the rs4880 superoxide dismutase 2 (C>T) gene variant and co... GAD 20728955 Detail
<0.001 Migraine Disorders We also found a mild correlation between SOD2 rs4880 genotype and the type of ac... BeFree 25295643 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000636.4(SOD2):c.47T>C (p.Val16Ala) AND SUPEROXIDE DISMUTASE 2 POLYMORPHISM ClinVar Detail
NM_000636.4(SOD2):c.47T>C (p.Val16Ala) AND Microvascular complications of diabetes, susceptibility t... ClinVar Detail
Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, rs2279744 of MDM2, rs... DisGeNET Detail
Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, rs2279744 of MDM2, rs... DisGeNET Detail
Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, rs2279744 of MDM2, rs... DisGeNET Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... DisGeNET Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... DisGeNET Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... DisGeNET Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... DisGeNET Detail
Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... DisGeNET Detail
Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... DisGeNET Detail
Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... DisGeNET Detail
Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... DisGeNET Detail
Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... DisGeNET Detail
Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... DisGeNET Detail
A high tertile selenium level in combination with non-wt rs125701 of the OGG1 gene in combination wi... DisGeNET Detail
A high tertile selenium level in combination with non-wt rs125701 of the OGG1 gene in combination wi... DisGeNET Detail
A high tertile selenium level in combination with non-wt rs125701 of the OGG1 gene in combination wi... DisGeNET Detail
A high tertile selenium level in combination with non-wt rs125701 of the OGG1 gene in combination wi... DisGeNET Detail
The SOD2 rs4880 CT + CC genotypes were significantly associated with a high level of lymph node meta... DisGeNET Detail
The SOD2 rs4880 CT + CC genotypes were significantly associated with a high level of lymph node meta... DisGeNET Detail
The current data, based on a large cohort (n = 929) of Chinese patients with gastric cancer, suggest... DisGeNET Detail
The current data, based on a large cohort (n = 929) of Chinese patients with gastric cancer, suggest... DisGeNET Detail
To evaluate whether the genetic polymorphisms of glutathione S-transferases M1 (GSTM1) and T1 (GSTT1... DisGeNET Detail
The aim of the present study was to test the association between genetic polymorphisms with function... DisGeNET Detail
The aim of the present study was to test the association between genetic polymorphisms with function... DisGeNET Detail
The aim of the present study was to test the association between genetic polymorphisms with function... DisGeNET Detail
To evaluate whether the genetic polymorphisms of glutathione S-transferases M1 (GSTM1) and T1 (GSTT1... DisGeNET Detail
In an analysis of manganese superoxide dismutase (SOD2 Val16Ala, rs1799725) Ala/Ala homozygotes, we ... DisGeNET Detail
We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males 66.1%, 59.5 ± 10.0 ... DisGeNET Detail
We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males 66.1%, 59.5 ± 10.0 ... DisGeNET Detail
We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males 66.1%, 59.5 ± 10.0 ... DisGeNET Detail
We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males 66.1%, 59.5 ± 10.0 ... DisGeNET Detail
We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males 66.1%, 59.5 ± 10.0 ... DisGeNET Detail
We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males 66.1%, 59.5 ± 10.0 ... DisGeNET Detail
We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males 66.1%, 59.5 ± 10.0 ... DisGeNET Detail
We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males 66.1%, 59.5 ± 10.0 ... DisGeNET Detail
We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males 66.1%, 59.5 ± 10.0 ... DisGeNET Detail
We enrolled 1977 Japanese type 2 diabetic subjects without history of CVD (males 66.1%, 59.5 ± 10.0 ... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... DisGeNET Detail
A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 a... DisGeNET Detail
A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 a... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
However, only four of the previously reported associations with polymorphisms in the GSTP1 (Ala14Val... DisGeNET Detail
(i) to determine the extent of oxidative stress and DNA damage and repair using a panel of selected ... DisGeNET Detail
Association of the Ala16Val MnSOD gene polymorphism with plasma leptin levels and oxidative stress b... DisGeNET Detail
No significant associations were observed between three other polymorphisms (MnSOD Ala16Val, CAT-262... DisGeNET Detail
Although the majority of evidence supports associations between the SOD2 Ala16Val SNP and diseases s... DisGeNET Detail
Association of C47T polymorphism in SOD2 gene with coronary artery disease: a case-control study and... DisGeNET Detail
Our aim was to determine whether Ala16Val-superoxide dismutase 2 (SOD2), G-463A-MPO, or T-262C-CAT d... DisGeNET Detail
The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency and phenotype of a co... DisGeNET Detail
We studied the possible association between Ala16Val manganese-dependent superoxide dismutase (MnSOD... DisGeNET Detail
Polymorphisms of the inflammatory pathway genes MPO -G463A and SOD2 Ala16Val are associated with ele... DisGeNET Detail
Functional variant of manganese superoxide dismutase (SOD2 V16A) polymorphism is associated with pro... DisGeNET Detail
In this case-control study (830 non-small cell lung carcinoma (NSCLC) patients; 1119 controls) we ev... DisGeNET Detail
The aim of the present study was to investigate the influence of MPO G-463A and SOD2 Ala16Val polymo... DisGeNET Detail
Data from two population-based, case-control studies of lymphoma in the UK (700 cases and 915 contro... DisGeNET Detail
We studied the possible association between Ala16Val manganese-dependent superoxide dismutase (MnSOD... DisGeNET Detail
SOD2 gene Val16Ala polymorphism is associated with macroalbuminuria in Mexican type 2 diabetes patie... DisGeNET Detail
Data from two population-based, case-control studies of lymphoma in the UK (700 cases and 915 contro... DisGeNET Detail
Functional variant of manganese superoxide dismutase (SOD2 V16A) polymorphism is associated with pro... DisGeNET Detail
Association of C47T polymorphism in SOD2 gene with coronary artery disease: a case-control study and... DisGeNET Detail
No association between SOD2 Val16Ala polymorphism and breast cancer susceptibility: a meta-analysis ... DisGeNET Detail
Polymorphisms of the inflammatory pathway genes MPO -G463A and SOD2 Ala16Val are associated with ele... DisGeNET Detail
The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency and phenotype of a co... DisGeNET Detail
Association between SOD2 C47T polymorphism and lung cancer susceptibility: a meta-analysis. DisGeNET Detail
To investigate the association between MnSOD Val(16)Ala polymorphism and risk of advanced gastric le... DisGeNET Detail
Is SOD2 Ala16Val polymorphism associated with migraine with aura phenotype? DisGeNET Detail
Association of C47T polymorphism in SOD2 gene with coronary artery disease: a case-control study and... DisGeNET Detail
The V16A polymorphism in SOD2 is associated with increased risk of diabetic nephropathy and cardiova... DisGeNET Detail
The V16A polymorphism in SOD2 is associated with increased risk of diabetic nephropathy and cardiova... DisGeNET Detail
Our findings suggest that the SOD2 Val16Ala variant is not related to the risk of breast cancer in K... DisGeNET Detail
Data from two population-based, case-control studies of lymphoma in the UK (700 cases and 915 contro... DisGeNET Detail
To investigate the association of the manganese-containing form of SOD (MnSOD) gene at amino acid po... DisGeNET Detail
Association between SOD2 C47T polymorphism and lung cancer susceptibility: a meta-analysis. DisGeNET Detail
The aim of the present study was to investigate the influence of MPO G-463A and SOD2 Ala16Val polymo... DisGeNET Detail
The association between the superoxide dismutase 2 (SOD2) Val16Ala polymorphism and the serum aminot... DisGeNET Detail
The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880) variant genotypes w... DisGeNET Detail
A statistically significant association of MnSOD Ala16Val polymorphism with diabetic retinopathy was... DisGeNET Detail
To investigate the association between MnSOD Val(16)Ala polymorphism and risk of advanced gastric le... DisGeNET Detail
Lack of association between MnSOD Val16Ala polymorphism and breast cancer risk: a meta-analysis invo... DisGeNET Detail
Polymorphisms of the inflammatory pathway genes MPO -G463A and SOD2 Ala16Val are associated with ele... DisGeNET Detail
The higher activity Ala variant at SOD2 Ex2+24T&gt;C (V16A), which has been hypothesized to suppress... DisGeNET Detail
Association of the Ala16Val MnSOD gene polymorphism with plasma leptin levels and oxidative stress b... DisGeNET Detail
Functional variant of manganese superoxide dismutase (SOD2 V16A) polymorphism is associated with pro... DisGeNET Detail
The aim of the present study was to investigate the influence of MPO G-463A and SOD2 Ala16Val polymo... DisGeNET Detail
Our findings suggest that the SOD2 Val16Ala variant is not related to the risk of breast cancer in K... DisGeNET Detail
Lack of association between MnSOD Val16Ala polymorphism and breast cancer risk: a meta-analysis invo... DisGeNET Detail
We tested an SOD2 variant C47T (Ala16Val) associated with reduced enzymatic activity as a potential ... DisGeNET Detail
Our results showed that the SOD2 Val16Ala polymorphism has an impact on the relationship between VPA... DisGeNET Detail
SOD2 V16A SNP in the mitochondrial targeting sequence is associated with noise induced hearing loss ... DisGeNET Detail
The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880) variant genotypes w... DisGeNET Detail
Our aim was to determine whether Ala16Val-superoxide dismutase 2 (SOD2), G-463A-MPO, or T-262C-CAT d... DisGeNET Detail
We found no evidence to support the role of any common SOD2 variations including the V16A variant in... DisGeNET Detail
The SOD2 C47T polymorphism influences NAFLD fibrosis severity: evidence from case-control and intra-... DisGeNET Detail
The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency and phenotype of a co... DisGeNET Detail
To examine the association between 2 mitochondrial manganese superoxide dismutase (MnSOD) genetic po... DisGeNET Detail
The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency and phenotype of a co... DisGeNET Detail
To examine the association between 2 mitochondrial manganese superoxide dismutase (MnSOD) genetic po... DisGeNET Detail
We assessed whether the functional V16A polymorphism in the MnSOD gene is associated with skin cance... DisGeNET Detail
Data from two population-based, case-control studies of lymphoma in the UK (700 cases and 915 contro... DisGeNET Detail
Polymorphisms of the inflammatory pathway genes MPO -G463A and SOD2 Ala16Val are associated with ele... DisGeNET Detail
The V16A polymorphism in SOD2 is associated with increased risk of diabetic nephropathy and cardiova... DisGeNET Detail
No association between SOD2 Val16Ala polymorphism and breast cancer susceptibility: a meta-analysis ... DisGeNET Detail
Functional variant of manganese superoxide dismutase (SOD2 V16A) polymorphism is associated with pro... DisGeNET Detail
No significant associations were observed between three other polymorphisms (MnSOD Ala16Val, CAT-262... DisGeNET Detail
(i) to determine the extent of oxidative stress and DNA damage and repair using a panel of selected ... DisGeNET Detail
In the present study we investigated the association of a number of polymorphic changes in antioxida... DisGeNET Detail
We evaluated potential associations between gene variants that result in reduced neutralization of r... DisGeNET Detail
In the present study we investigated the association of a number of polymorphic changes in antioxida... DisGeNET Detail
We evaluated potential associations between gene variants that result in reduced neutralization of r... DisGeNET Detail
In the present study we investigated the association of a number of polymorphic changes in antioxida... DisGeNET Detail
In the present study we investigated the association of a number of polymorphic changes in antioxida... DisGeNET Detail
In the present study we investigated the association of a number of polymorphic changes in antioxida... DisGeNET Detail
We evaluated potential associations between gene variants that result in reduced neutralization of r... DisGeNET Detail
In the present study we investigated the association of a number of polymorphic changes in antioxida... DisGeNET Detail
We evaluated potential associations between gene variants that result in reduced neutralization of r... DisGeNET Detail
[Association between the rs4880 superoxide dismutase 2 (C>T) gene variant and coronary heart disease... DisGeNET Detail
Evaluating the subgroup of 293 ICU patients with sepsis, a pooled analysis including two genetic var... DisGeNET Detail
Evaluating the subgroup of 293 ICU patients with sepsis, a pooled analysis including two genetic var... DisGeNET Detail
The C allele of SOD2 (rs4880) was more frequent in Ménière's disease cases with a hearing level over... DisGeNET Detail
NA DisGeNET Detail
[Our results are consistent with the hypothesis that women with higher SOD2 antioxidant activity may... DisGeNET Detail
[Association between the rs4880 superoxide dismutase 2 (C>T) gene variant and coronary heart disease... DisGeNET Detail
We also found a mild correlation between SOD2 rs4880 genotype and the type of acute migraine treatme... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4880 dbSNP
Genome
hg38
Position
chr6:159,692,840-159,692,840
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1140
Mean of sample read depth (HGVD)
64.84
Standard deviation of sample read depth (HGVD)
28.62
Number of reference allele (HGVD)
2028
Number of alternative allele (HGVD)
252
Allele Frequency (HGVD)
0.11052631578947368
Gene Symbol (HGVD)
SOD2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs4880
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1223
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2049
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7262
East Asian Allele Counts (ExAC)
1159
East Asian Heterozygous Counts (ExAC)
1003
East Asian Homozygous Counts (ExAC)
78
East Asian Allele Frequency (ExAC)
0.15959790691269624
Chromosome Counts in All Race (ExAC)
110890
Allele Counts in All Race (ExAC)
55710
Heterozygous Counts in All Race (ExAC)
28130
Homozygous Counts in All Race (ExAC)
13790
Allele Frequency in All Race (ExAC)
0.5023897556136712
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