chr7:150690079:C>T Detail (hg19) (NOS3, LOC110973015)

Information

Genome

Assembly Position
hg19 chr7:150,690,079-150,690,079
hg38 chr7:150,992,991-150,992,991 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000603.4:c.-51-762C>T
Ensemble ENST00000297494.8:c.-51-762C>T
ENST00000461406.5:c.-149+1691C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.890
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance protective
Review star
Show details
Links
Type Database ID Link
Gene MIM 163729 OMIM
HGNC 7876 HGNC
Ensembl ENSG00000164867 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv31480114 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective 2017-06-01 criteria provided, single submitter Metabolic syndrome, susceptibility to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.005 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.011 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.115 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.005 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.002 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.002 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.143 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.122 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
<0.001 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.006 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.143 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
<0.001 Carcinoma of bladder In this study we analyzed if the NOS3 promoter polymorphism -786T&gt;C (rs207074... BeFree 21703358 Detail
<0.001 Malignant neoplasm of urinary bladder In this study we analyzed if the NOS3 promoter polymorphism -786T&gt;C (rs207074... BeFree 21703358 Detail
0.040 Acute coronary syndrome Six polymorphisms (rs1799983, rs2070744, rs1800783, rs3087459, rs1800541, and rs... BeFree 24035903 Detail
0.347 Hypertensive disease To examine the relationship of three eNOS gene polymorphisms, T-786C (rs2070744)... BeFree 21968727 Detail
<0.001 Left Ventricular Hypertrophy Three NOS3 genetic variants, -T786C (rs2070744), eNOS4a/b and +G894T (rs1799983)... BeFree 19132956 Detail
<0.001 Hypoxic-Ischemic Encephalopathy The TGT haplotype of rs1800783, rs1800779, and rs2070744 polymorphisms was assoc... BeFree 25140814 Detail
<0.001 borderline personality disorder We could replicate and extend previous findings showing altered NOx (-) levels i... BeFree 25320160 Detail
<0.001 Dyslipidemias The purpose of this study was to examine possible associations of the NOS3 T-786... BeFree 23122449 Detail
<0.001 bronchopulmonary dysplasia We could replicate and extend previous findings showing altered NOx (-) levels i... BeFree 25320160 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of ... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of ... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of ... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000603.5(NOS3):c.-51-762C>T AND Metabolic syndrome, susceptibility to ClinVar Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
In this study we analyzed if the NOS3 promoter polymorphism -786T&gt;C (rs2070744) and the NOS3 Glu2... DisGeNET Detail
In this study we analyzed if the NOS3 promoter polymorphism -786T&gt;C (rs2070744) and the NOS3 Glu2... DisGeNET Detail
Six polymorphisms (rs1799983, rs2070744, rs1800783, rs3087459, rs1800541, and rs5369) of eNOS and ED... DisGeNET Detail
To examine the relationship of three eNOS gene polymorphisms, T-786C (rs2070744), G894T (rs1799983),... DisGeNET Detail
Three NOS3 genetic variants, -T786C (rs2070744), eNOS4a/b and +G894T (rs1799983), were genotyped in ... DisGeNET Detail
The TGT haplotype of rs1800783, rs1800779, and rs2070744 polymorphisms was associated with hypoxic-i... DisGeNET Detail
We could replicate and extend previous findings showing altered NOx (-) levels in BPD and an influen... DisGeNET Detail
The purpose of this study was to examine possible associations of the NOS3 T-786C polymorphism (rs20... DisGeNET Detail
We could replicate and extend previous findings showing altered NOx (-) levels in BPD and an influen... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also sign... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also sign... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
In Kaplan-Meier analyses, rs2070744 of NOS3, rs720321 of BCL2, and rs1035142 of CASP8 were also sign... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2070744 dbSNP
Genome
hg19
Position
chr7:150,690,079-150,690,079
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs2070744
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8901
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14917
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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