rs773126191
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs773126191(C;T) |
Make rs773126191(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 38334703 |
Gene | GPR179 |
is a | snp |
is | mentioned by |
dbSNP | rs773126191 |
dbSNP (classic) | rs773126191 |
ClinGen | rs773126191 |
ebi | rs773126191 |
HLI | rs773126191 |
Exac | rs773126191 |
Gnomad | rs773126191 |
Varsome | rs773126191 |
LitVar | rs773126191 |
Map | rs773126191 |
PheGenI | rs773126191 |
Biobank | rs773126191 |
1000 genomes | rs773126191 |
hgdp | rs773126191 |
ensembl | rs773126191 |
geneview | rs773126191 |
scholar | rs773126191 |
rs773126191 | |
pharmgkb | rs773126191 |
gwascentral | rs773126191 |
openSNP | rs773126191 |
23andMe | rs773126191 |
SNPshot | rs773126191 |
SNPdbe | rs773126191 |
MSV3d | rs773126191 |
GWAS Ctlg | rs773126191 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773126191(T;T) |
Alt | rs773126191(T;T) |
Reference | Rs773126191(C;C) |
Significance | Pathogenic |
Disease | Congenital stationary night blindness |
Variation | info |
Gene | GPR179 |
CLNDBN | Congenital stationary night blindness, type 1E |
Reversed | 0 |
HGVS | NC_000017.10:g.36490586C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024202.4, |