rs140263599
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140263599(C;T) |
Make rs140263599(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 6843073 |
Gene | GNB3 |
is a | snp |
is | mentioned by |
dbSNP | rs140263599 |
dbSNP (classic) | rs140263599 |
ClinGen | rs140263599 |
ebi | rs140263599 |
HLI | rs140263599 |
Exac | rs140263599 |
Gnomad | rs140263599 |
Varsome | rs140263599 |
LitVar | rs140263599 |
Map | rs140263599 |
PheGenI | rs140263599 |
Biobank | rs140263599 |
1000 genomes | rs140263599 |
hgdp | rs140263599 |
ensembl | rs140263599 |
geneview | rs140263599 |
scholar | rs140263599 |
rs140263599 | |
pharmgkb | rs140263599 |
gwascentral | rs140263599 |
openSNP | rs140263599 |
23andMe | rs140263599 |
SNPshot | rs140263599 |
SNPdbe | rs140263599 |
MSV3d | rs140263599 |
GWAS Ctlg | rs140263599 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140263599(T;T) |
Alt | rs140263599(T;T) |
Reference | Rs140263599(C;C) |
Significance | Pathogenic |
Disease | Night blindness |
Variation | info |
Gene | GNB3 |
CLNDBN | Night blindness, congenital stationary, type 1h |
Reversed | 0 |
HGVS | NC_000012.11:g.6952237C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234967.2, |