chr7:150998638:T>C Detail (hg38) (NOS3)

Information

Genome

Assembly Position
hg19 chr7:150,695,726-150,695,726 View the variant detail on this assembly version.
hg38 chr7:150,998,638-150,998,638

HGVS

Type Transcript Protein
RefSeq NM_000603.4:c.774T>C NP_000594.2:p.Asp258=
NM_001160109.1:c.774T>C NP_001153581.1:p.Asp258=
NM_001160110.1:c.774T>C NP_001153582.1:p.Asp258=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.881
ToMMo:0.872
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.830

Prediction

ClinVar

Clinical Significance Benign
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 tgv31480597 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-03-28 criteria provided, single submitter not specified germline Detail
risk factor 2017-06-01 criteria provided, single submitter Metabolic syndrome, susceptibility to germline Detail
Benign 2021-05-04 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.101 Diabetic Nephropathy Logistic regression analysis identified SNPs AGER 2184A/G and NOS3 774C/T, toget... BeFree 17345061 Detail
0.140 Diabetes Mellitus, Insulin-Dependent Recently, we reported a strong association between the eNOS4b/a endothelial nitr... BeFree 15890549 Detail
0.118 diabetic retinopathy The T-786C and C774T endothelial nitric oxide synthase gene polymorphisms indepe... BeFree 15890549 Detail
0.159 Diabetic Nephropathy Logistic regression analysis identified SNPs AGER 2184A/G and NOS3 774C/T, toget... BeFree 17345061 Detail
0.020 diabetes mellitus Logistic regression analysis identified SNPs AGER 2184A/G and NOS3 774C/T, toget... BeFree 17345061 Detail
0.006 Diabetes Logistic regression analysis identified SNPs AGER 2184A/G and NOS3 774C/T, toget... BeFree 17345061 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000603.5(NOS3):c.774T>C (p.Asp258=) AND not specified ClinVar Detail
NM_000603.4(NOS3):c.[774T>C;894T>G] AND Metabolic syndrome, susceptibility to ClinVar Detail
NM_000603.5(NOS3):c.774T>C (p.Asp258=) AND not provided ClinVar Detail
Logistic regression analysis identified SNPs AGER 2184A/G and NOS3 774C/T, together with diabetes du... DisGeNET Detail
Recently, we reported a strong association between the eNOS4b/a endothelial nitric oxide synthase (e... DisGeNET Detail
The T-786C and C774T endothelial nitric oxide synthase gene polymorphisms independently affect the o... DisGeNET Detail
Logistic regression analysis identified SNPs AGER 2184A/G and NOS3 774C/T, together with diabetes du... DisGeNET Detail
Logistic regression analysis identified SNPs AGER 2184A/G and NOS3 774C/T, together with diabetes du... DisGeNET Detail
Logistic regression analysis identified SNPs AGER 2184A/G and NOS3 774C/T, together with diabetes du... 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
rs1549758 dbSNP
Genome
hg38
Position
chr7:150,998,638-150,998,638
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1201
Mean of sample read depth (HGVD)
71.28
Standard deviation of sample read depth (HGVD)
34.07
Number of reference allele (HGVD)
286
Number of alternative allele (HGVD)
2115
Allele Frequency (HGVD)
0.8808829654310704
Gene Symbol (HGVD)
NOS3
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))
rs1549758
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8724
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14620
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
7852
East Asian Allele Counts (ExAC)
6521
East Asian Heterozygous Counts (ExAC)
1161
East Asian Homozygous Counts (ExAC)
2680
East Asian Allele Frequency (ExAC)
0.8304890473764646
Chromosome Counts in All Race (ExAC)
104682
Allele Counts in All Race (ExAC)
80619
Heterozygous Counts in All Race (ExAC)
18721
Homozygous Counts in All Race (ExAC)
30949
Allele Frequency in All Race (ExAC)
0.7701324009858428
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