chr7:150992309:A>C Detail (hg38) (NOS3)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_000603.4:c.-52+1009A>C
Ensemble ENST00000297494.8:c.-52+1009A>C
ENST00000461406.5:c.-149+1009A>C
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
0.040 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
hg38
Position
chr7:150,992,309-150,992,309
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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