chr7:150998541:C>T Detail (hg38) (NOS3)

Information

Genome

Assembly Position
hg19 chr7:150,695,629-150,695,629 View the variant detail on this assembly version.
hg38 chr7:150,998,541-150,998,541

HGVS

Type Transcript Protein
RefSeq NM_000603.4:c.677C>T NP_000594.2:p.Ser226Leu
NM_001160109.1:c.677C>T NP_001153581.1:p.Ser226Leu
NM_001160110.1:c.677C>T NP_001153582.1:p.Ser226Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 acute myocardial infarction Few studies were performed on genetics of the renin-angiotensin-aldosterone syst... BeFree 15284679 Detail
0.003 acute myocardial infarction Few studies were performed on genetics of the renin-angiotensin-aldosterone syst... BeFree 15284679 Detail
0.002 Homocysteinemia These data suggest that both MTHFR C677T and eNOS G894T variants should be regar... BeFree 21607713 Detail
0.014 Endothelial dysfunction An increasing body of evidence suggests that different genetic factors, such as ... BeFree 17504188 Detail
0.142 Cerebrovascular accident In order to investigate the influence of genetic factors in childhood stroke, we... BeFree 19372095 Detail
0.003 Endothelial dysfunction An increasing body of evidence suggests that different genetic factors, such as ... BeFree 17504188 Detail
0.015 Ischemic stroke However, it is the interplay of both environmental and common genetic factors [s... BeFree 16787209 Detail
0.002 acute myocardial infarction Few studies were performed on genetics of the renin-angiotensin-aldosterone syst... BeFree 15284679 Detail
<0.001 Endothelial dysfunction An increasing body of evidence suggests that different genetic factors, such as ... BeFree 17504188 Detail
0.146 Homocysteinemia These data suggest that both MTHFR C677T and eNOS G894T variants should be regar... BeFree 21607713 Detail
0.005 Endothelial dysfunction An increasing body of evidence suggests that different genetic factors, such as ... BeFree 17504188 Detail
0.002 Ischemic stroke However, it is the interplay of both environmental and common genetic factors [s... BeFree 16787209 Detail
<0.001 Renal Artery Stenosis In the hypertensive population referred for coronary and renal angiography, the ... BeFree 19043368 Detail
0.029 Ischemic stroke However, it is the interplay of both environmental and common genetic factors [s... BeFree 16787209 Detail
0.337 hyperhomocysteinemia These data suggest that both MTHFR C677T and eNOS G894T variants should be regar... BeFree 21607713 Detail
0.016 Ischemic stroke However, it is the interplay of both environmental and common genetic factors [s... BeFree 16787209 Detail
0.005 hyperhomocysteinemia These data suggest that both MTHFR C677T and eNOS G894T variants should be regar... BeFree 21607713 Detail
0.001 Fibrillation Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS gene polymorphisms ... BeFree 17551576 Detail
<0.001 Fibrillation Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS gene polymorphisms ... BeFree 17551576 Detail
0.005 coronary artery disease We evaluated associations of five candidate genetic polymorphisms (methylene tet... BeFree 21450592 Detail
0.234 coronary artery disease We evaluated associations of five candidate genetic polymorphisms (methylene tet... BeFree 21450592 Detail
0.265 coronary artery disease We evaluated associations of five candidate genetic polymorphisms (methylene tet... BeFree 21450592 Detail
0.208 coronary artery disease We evaluated associations of five candidate genetic polymorphisms (methylene tet... BeFree 21450592 Detail
0.189 Cardiovascular Diseases The guanine to thymine polymorphism at position 894 of the eNOS gene (resulting ... BeFree 15494775 Detail
0.124 cerebral infarction We examined the association between different polymorphisms frequently found in ... BeFree 20446941 Detail
0.013 cerebral infarction We examined the association between different polymorphisms frequently found in ... BeFree 20446941 Detail
0.239 Coronary heart disease The objective of our study is to evaluate the single locus and combined effects ... BeFree 16845248 Detail
<0.001 Mild cognitive disorder Genotyping for MTHFR C677T and eNOS 894G &gt; T polymorphisms was carried out in... BeFree 21607713 Detail
<0.001 Coronary heart disease, susceptibility to, 5 The objective of our study is to evaluate the single locus and combined effects ... BeFree 16845248 Detail
0.257 Cerebrovascular accident We examined the association between different polymorphisms frequently found in ... BeFree 20446941 Detail
0.135 coronary artery disease The objective of our study is to evaluate the single locus and combined effects ... BeFree 16845248 Detail
<0.001 Coronary heart disease, susceptibility to, 5 The objective of our study is to evaluate the single locus and combined effects ... BeFree 16845248 Detail
0.046 Coronary Arteriosclerosis The objective of our study is to evaluate the single locus and combined effects ... BeFree 16845248 Detail
0.173 atherosclerosis The guanine to thymine polymorphism at position 894 of the eNOS gene (resulting ... BeFree 15494775 Detail
0.134 arteriosclerosis The guanine to thymine polymorphism at position 894 of the eNOS gene (resulting ... BeFree 15494775 Detail
0.008 spina bifida The nitric oxide synthase 3 (NOS3) G594T polymorphism has been implicated in ris... BeFree 24323870 Detail
0.029 cerebral infarction We examined the association between different polymorphisms frequently found in ... BeFree 20446941 Detail
Annotation

Annotations

DescrptionSourceLinks
Few studies were performed on genetics of the renin-angiotensin-aldosterone system and the results a... DisGeNET Detail
Few studies were performed on genetics of the renin-angiotensin-aldosterone system and the results a... DisGeNET Detail
These data suggest that both MTHFR C677T and eNOS G894T variants should be regarded as genetic risk ... DisGeNET Detail
An increasing body of evidence suggests that different genetic factors, such as angiotensin-converti... DisGeNET Detail
In order to investigate the influence of genetic factors in childhood stroke, we compared the distri... DisGeNET Detail
An increasing body of evidence suggests that different genetic factors, such as angiotensin-converti... DisGeNET Detail
However, it is the interplay of both environmental and common genetic factors [such as the Leiden V,... DisGeNET Detail
Few studies were performed on genetics of the renin-angiotensin-aldosterone system and the results a... DisGeNET Detail
An increasing body of evidence suggests that different genetic factors, such as angiotensin-converti... DisGeNET Detail
These data suggest that both MTHFR C677T and eNOS G894T variants should be regarded as genetic risk ... DisGeNET Detail
An increasing body of evidence suggests that different genetic factors, such as angiotensin-converti... DisGeNET Detail
However, it is the interplay of both environmental and common genetic factors [such as the Leiden V,... DisGeNET Detail
In the hypertensive population referred for coronary and renal angiography, the ACE insertion/deleti... DisGeNET Detail
However, it is the interplay of both environmental and common genetic factors [such as the Leiden V,... DisGeNET Detail
These data suggest that both MTHFR C677T and eNOS G894T variants should be regarded as genetic risk ... DisGeNET Detail
However, it is the interplay of both environmental and common genetic factors [such as the Leiden V,... DisGeNET Detail
These data suggest that both MTHFR C677T and eNOS G894T variants should be regarded as genetic risk ... DisGeNET Detail
Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS gene polymorphisms in atrial fibrillati... DisGeNET Detail
Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS gene polymorphisms in atrial fibrillati... DisGeNET Detail
We evaluated associations of five candidate genetic polymorphisms (methylene tetrahydrofolate reduct... DisGeNET Detail
We evaluated associations of five candidate genetic polymorphisms (methylene tetrahydrofolate reduct... DisGeNET Detail
We evaluated associations of five candidate genetic polymorphisms (methylene tetrahydrofolate reduct... DisGeNET Detail
We evaluated associations of five candidate genetic polymorphisms (methylene tetrahydrofolate reduct... DisGeNET Detail
The guanine to thymine polymorphism at position 894 of the eNOS gene (resulting in a change from glu... DisGeNET Detail
We examined the association between different polymorphisms frequently found in young patients with ... DisGeNET Detail
We examined the association between different polymorphisms frequently found in young patients with ... DisGeNET Detail
The objective of our study is to evaluate the single locus and combined effects of three different g... DisGeNET Detail
Genotyping for MTHFR C677T and eNOS 894G &gt; T polymorphisms was carried out in 69 patients with pr... DisGeNET Detail
The objective of our study is to evaluate the single locus and combined effects of three different g... DisGeNET Detail
We examined the association between different polymorphisms frequently found in young patients with ... DisGeNET Detail
The objective of our study is to evaluate the single locus and combined effects of three different g... DisGeNET Detail
The objective of our study is to evaluate the single locus and combined effects of three different g... DisGeNET Detail
The objective of our study is to evaluate the single locus and combined effects of three different g... DisGeNET Detail
The guanine to thymine polymorphism at position 894 of the eNOS gene (resulting in a change from glu... DisGeNET Detail
The guanine to thymine polymorphism at position 894 of the eNOS gene (resulting in a change from glu... DisGeNET Detail
The nitric oxide synthase 3 (NOS3) G594T polymorphism has been implicated in risk for spina bifida, ... DisGeNET Detail
We examined the association between different polymorphisms frequently found in young patients with ... 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
rs375752214 dbSNP
Genome
hg38
Position
chr7:150,998,541-150,998,541
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser