rs794727980
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs794727980(-;-) |
Make rs794727980(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 197435246 |
Gene | CRB1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727980 |
dbSNP (classic) | rs794727980 |
ClinGen | rs794727980 |
ebi | rs794727980 |
HLI | rs794727980 |
Exac | rs794727980 |
Gnomad | rs794727980 |
Varsome | rs794727980 |
LitVar | rs794727980 |
Map | rs794727980 |
PheGenI | rs794727980 |
Biobank | rs794727980 |
1000 genomes | rs794727980 |
hgdp | rs794727980 |
ensembl | rs794727980 |
geneview | rs794727980 |
scholar | rs794727980 |
rs794727980 | |
pharmgkb | rs794727980 |
gwascentral | rs794727980 |
openSNP | rs794727980 |
23andMe | rs794727980 |
SNPshot | rs794727980 |
SNPdbe | rs794727980 |
MSV3d | rs794727980 |
GWAS Ctlg | rs794727980 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727980(-;-) |
Alt | rs794727980(-;-) |
Reference | Rs794727980(T;T) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 8 Retinitis pigmentosa 12 |
Variation | info |
Gene | CRB1 |
CLNDBN | Leber congenital amaurosis 8 Retinitis pigmentosa 12 |
Reversed | 0 |
HGVS | NC_000001.10:g.197404376delT |
CLNSRC | |
CLNACC | RCV000180718.1, RCV000180719.1, |