chr7:150689397:A>T Detail (hg19) (NOS3)

Information

Genome

Assembly Position
hg19 chr7:150,689,397-150,689,397
hg38 chr7:150,992,309-150,992,309 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000603.4:c.-52+1009A>T
Ensemble ENST00000297494.8:c.-52+1009A>T
ENST00000461406.5:c.-149+1009A>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
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 tgv31480099 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
0.040 Acute coronary syndrome Six polymorphisms (rs1799983, rs2070744, rs1800783, rs3087459, rs1800541, and rs... BeFree 24035903 Detail
<0.001 Hypoxic-Ischemic Encephalopathy The TGT haplotype of rs1800783, rs1800779, and rs2070744 polymorphisms was assoc... BeFree 25140814 Detail
0.001 Kidney Diseases The A allele of rs1800783 is a significant risk factor for nephropathy in indivi... BeFree 20962522 Detail
0.001 Diabetes Mellitus, Insulin-Dependent The A allele of rs1800783 is a significant risk factor for nephropathy in indivi... BeFree 20962522 Detail
Annotation

Annotations

DescrptionSourceLinks
Six polymorphisms (rs1799983, rs2070744, rs1800783, rs3087459, rs1800541, and rs5369) of eNOS and ED... DisGeNET Detail
The TGT haplotype of rs1800783, rs1800779, and rs2070744 polymorphisms was associated with hypoxic-i... DisGeNET Detail
The A allele of rs1800783 is a significant risk factor for nephropathy in individuals with type 1 di... DisGeNET Detail
The A allele of rs1800783 is a significant risk factor for nephropathy in individuals with type 1 di... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1800783 dbSNP
Genome
hg19
Position
chr7:150,689,397-150,689,397
Variant Type
snv
Reference Allele
A
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))
rs1800783
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8902
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14918
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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