rs879253774
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAG;AAG) | 0 | common in clinvar |
Make rs879253774(-;-) |
Make rs879253774(-;AGA) |
Make rs879253774(AGA;AGA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 6843043 |
Gene | GNB3 |
is a | snp |
is | mentioned by |
dbSNP | rs879253774 |
dbSNP (classic) | rs879253774 |
ClinGen | rs879253774 |
ebi | rs879253774 |
HLI | rs879253774 |
Exac | rs879253774 |
Gnomad | rs879253774 |
Varsome | rs879253774 |
LitVar | rs879253774 |
Map | rs879253774 |
PheGenI | rs879253774 |
Biobank | rs879253774 |
1000 genomes | rs879253774 |
hgdp | rs879253774 |
ensembl | rs879253774 |
geneview | rs879253774 |
scholar | rs879253774 |
rs879253774 | |
pharmgkb | rs879253774 |
gwascentral | rs879253774 |
openSNP | rs879253774 |
23andMe | rs879253774 |
SNPshot | rs879253774 |
SNPdbe | rs879253774 |
MSV3d | rs879253774 |
GWAS Ctlg | rs879253774 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253774(-;-) |
Alt | rs879253774(-;-) |
Reference | Rs879253774(AAG;AAG) |
Significance | Pathogenic |
Disease | Night blindness |
Variation | info |
Gene | GNB3 |
CLNDBN | Night blindness, congenital stationary, type 1h |
Reversed | 0 |
HGVS | NC_000012.11:g.6952207_6952209delAGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234964.2, |