chr7:150706383:C>A Detail (hg19) (NOS3)

Information

Genome

Assembly Position
hg19 chr7:150,706,383-150,706,383
hg38 chr7:151,009,295-151,009,295 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000603.4:c.2324+28C>A
Ensemble ENST00000297494.8:c.2324+28C>A
ENST00000461406.5:c.1706+28C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.966
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.967

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 tgv31481455 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-05-13 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.014 Endothelial dysfunction Measures of glucose tolerance, insulin sensitivity, markers of endothelial dysfu... BeFree 18349107 Detail
0.002 coronary artery disease We previously reported the genetic association between NOS3 rs753482-A>C poly... BeFree 24302629 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000603.5(NOS3):c.2324+28C>A AND not provided ClinVar Detail
Measures of glucose tolerance, insulin sensitivity, markers of endothelial dysfunction, forearm vaso... DisGeNET Detail
We previously reported the genetic association between NOS3 rs753482-A>C polymorphism on intron 1... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs753482 dbSNP
Genome
hg19
Position
chr7:150,706,383-150,706,383
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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))
rs753482
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9663
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16162
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16726
East Asian Chromosome Counts (ExAC)
7044
East Asian Allele Counts (ExAC)
6810
East Asian Heterozygous Counts (ExAC)
225
East Asian Homozygous Counts (ExAC)
3292
East Asian Allele Frequency (ExAC)
0.9667802385008518
Chromosome Counts in All Race (ExAC)
98768
Allele Counts in All Race (ExAC)
82856
Heterozygous Counts in All Race (ExAC)
13567
Homozygous Counts in All Race (ExAC)
34641
Allele Frequency in All Race (ExAC)
0.8388951887250932
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