chr15:78513681:T>C Detail (hg38) (HYKK)

Information

Genome

Assembly Position
hg19 chr15:78,806,023-78,806,023 View the variant detail on this assembly version.
hg38 chr15:78,513,681-78,513,681

HGVS

Type Transcript Protein
RefSeq NM_001013619.3:c.337+256T>C
Ensemble ENST00000388988.9:c.337+256T>C
ENST00000566332.5:c.337+256T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.022
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 614681 OMIM
HGNC 34403 HGNC
Ensembl ENSG00000188266 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53650200 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 pulmonary emphysema We found strong genetic associations between the mild upper zone emphysema group... BeFree 24563194 Detail
0.002 Carcinoma of lung Our findings demonstrated that CHRNA3 gene rs1051730-A allele and AGPHD1 gene rs... BeFree 22701590 Detail
0.010 Carcinoma of lung Our findings demonstrated that CHRNA3 gene rs1051730-A allele and AGPHD1 gene rs... BeFree 22701590 Detail
0.010 Carcinoma of lung Similarly, neither CHRNA3 rs8034191 nor rs1051730 were associated with lung canc... BeFree 20068085 Detail
0.133 nicotine dependence Genotypes for two SNPs in the CHRNA3/5 region (rs8034191, rs1051730) previously ... BeFree 21232152 Detail
0.179 Malignant neoplasm of lung Similarly, neither CHRNA3 rs8034191 nor rs1051730 were associated with lung canc... BeFree 20068085 Detail
0.134 Malignant neoplasm of lung Our findings demonstrated that CHRNA3 gene rs1051730-A allele and AGPHD1 gene rs... BeFree 22701590 Detail
0.179 Malignant neoplasm of lung Our findings demonstrated that CHRNA3 gene rs1051730-A allele and AGPHD1 gene rs... BeFree 22701590 Detail
0.134 Malignant neoplasm of lung A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor ... GWASCAT 18385738 Detail
0.015 Malignant neoplasm of lung [A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor... GAD 18385738 Detail
0.015 Malignant neoplasm of lung [Genome-wide association scan of tag SNPs identifies a susceptibility locus for ... GAD 18385676 Detail
0.018 Malignant neoplasm of lung [A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor... GAD 18385738 Detail
0.125 Chronic Obstructive Airway Disease [A genome-wide association study in chronic obstructive pulmonary disease (COPD)... GAD 19300482 Detail
0.009 Lung Neoplasms [Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.] GAD 18780872 Detail
0.129 Chronic Obstructive Airway Disease [The CHRNA 3/5 and the HHIP loci make a significant contribution to the risk of ... GAD 19300482 Detail
0.127 Chronic Obstructive Airway Disease [A genome-wide association study in chronic obstructive pulmonary disease (COPD)... GAD 19300482 Detail
0.018 Malignant neoplasm of lung [We identified associations between common sequence variants at 15q24-25.1 (that... GAD 18780872 Detail
0.134 Malignant neoplasm of lung We identified associations between common sequence variants at 15q24-25.1 (that ... GWASCAT 18780872 Detail
0.134 Malignant neoplasm of lung Meta-analysis of the association between the rs8034191 polymorphism in AGPHD1 an... BeFree 25854352 Detail
0.125 Chronic Obstructive Airway Disease A genome-wide association study in chronic obstructive pulmonary disease (COPD):... GWASCAT 19300482 Detail
0.009 Lung Neoplasms [A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor... GAD 18385738 Detail
0.060 Malignant neoplasm of lung [We identified associations between common sequence variants at 15q24-25.1 (that... GAD 18780872 Detail
<0.001 Carcinogenesis Results from previous studies addressing the association of AGPHD1 variant rs803... BeFree 25074529 Detail
0.009 Lung Neoplasms [variation in a region of 15q25.] GAD 18385676 Detail
0.129 Chronic Obstructive Airway Disease [A genome-wide association study in chronic obstructive pulmonary disease (COPD)... GAD 19300482 Detail
0.002 Chronic Obstructive Airway Disease [A genome-wide association study in chronic obstructive pulmonary disease (COPD)... GAD 19300482 Detail
0.134 Malignant neoplasm of lung Deciphering the impact of common genetic variation on lung cancer risk: a genome... GWASCAT 19654303 Detail
0.015 Malignant neoplasm of lung [We identified associations between common sequence variants at 15q24-25.1 (that... GAD 18780872 Detail
0.134 Malignant neoplasm of lung Genome-wide association scan of tag SNPs identifies a susceptibility locus for l... GWASCAT 18385676 Detail
0.002 Carcinoma of lung Meta-analysis of the association between the rs8034191 polymorphism in AGPHD1 an... BeFree 25854352 Detail
0.009 Lung Neoplasms [Deciphering the impact of common genetic variation on lung cancer risk: a genom... GAD 19654303 Detail
0.003 Chronic Obstructive Airway Disease [A genome-wide association study in chronic obstructive pulmonary disease (COPD)... GAD 19300482 Detail
0.001 Bronchial Hyperreactivity The rs8034191 SNP genotyped in 551 children from the environment and childhood a... BeFree 22017462 Detail
0.003 Chronic Obstructive Airway Disease We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13... BeFree 22461431 Detail
<0.001 Chronic Obstructive Airway Disease We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13... BeFree 22461431 Detail
0.248 Chronic Obstructive Airway Disease We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13... BeFree 22461431 Detail
Annotation

Annotations

DescrptionSourceLinks
We found strong genetic associations between the mild upper zone emphysema group and rs1980057 near ... DisGeNET Detail
Our findings demonstrated that CHRNA3 gene rs1051730-A allele and AGPHD1 gene rs8034191-T allele mig... DisGeNET Detail
Our findings demonstrated that CHRNA3 gene rs1051730-A allele and AGPHD1 gene rs8034191-T allele mig... DisGeNET Detail
Similarly, neither CHRNA3 rs8034191 nor rs1051730 were associated with lung cancer risk. DisGeNET Detail
Genotypes for two SNPs in the CHRNA3/5 region (rs8034191, rs1051730) previously associated with nico... DisGeNET Detail
Similarly, neither CHRNA3 rs8034191 nor rs1051730 were associated with lung cancer risk. DisGeNET Detail
Our findings demonstrated that CHRNA3 gene rs1051730-A allele and AGPHD1 gene rs8034191-T allele mig... DisGeNET Detail
Our findings demonstrated that CHRNA3 gene rs1051730-A allele and AGPHD1 gene rs8034191-T allele mig... DisGeNET Detail
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q... DisGeNET Detail
[A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15... DisGeNET Detail
[Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25... DisGeNET Detail
[A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15... DisGeNET Detail
[A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of ... DisGeNET Detail
[Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.] DisGeNET Detail
[The CHRNA 3/5 and the HHIP loci make a significant contribution to the risk of COPD.] DisGeNET Detail
[A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of ... DisGeNET Detail
[We identified associations between common sequence variants at 15q24-25.1 (that spanned LOC123688 a... DisGeNET Detail
We identified associations between common sequence variants at 15q24-25.1 (that spanned LOC123688 [a... DisGeNET Detail
Meta-analysis of the association between the rs8034191 polymorphism in AGPHD1 and lung cancer risk. DisGeNET Detail
A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of t... DisGeNET Detail
[A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15... DisGeNET Detail
[We identified associations between common sequence variants at 15q24-25.1 (that spanned LOC123688 a... DisGeNET Detail
Results from previous studies addressing the association of AGPHD1 variant rs8034191 with lung carci... DisGeNET Detail
[variation in a region of 15q25.] DisGeNET Detail
[A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of ... DisGeNET Detail
[A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of ... DisGeNET Detail
Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association st... DisGeNET Detail
[We identified associations between common sequence variants at 15q24-25.1 (that spanned LOC123688 a... DisGeNET Detail
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.... DisGeNET Detail
Meta-analysis of the association between the rs8034191 polymorphism in AGPHD1 and lung cancer risk. DisGeNET Detail
[Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association s... DisGeNET Detail
[A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of ... DisGeNET Detail
The rs8034191 SNP genotyped in 551 children from the environment and childhood asthma (ECA) birth co... DisGeNET Detail
We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8... DisGeNET Detail
We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8... DisGeNET Detail
We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs8034191 dbSNP
Genome
hg38
Position
chr15:78,513,681-78,513,681
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs8034191
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0223
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
373
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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