rs535922252
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs535922252(A;G) |
Make rs535922252(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 14 |
Position | 21324747 |
Gene | RPGRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs535922252 |
dbSNP (classic) | rs535922252 |
ClinGen | rs535922252 |
ebi | rs535922252 |
HLI | rs535922252 |
Exac | rs535922252 |
Gnomad | rs535922252 |
Varsome | rs535922252 |
LitVar | rs535922252 |
Map | rs535922252 |
PheGenI | rs535922252 |
Biobank | rs535922252 |
1000 genomes | rs535922252 |
hgdp | rs535922252 |
ensembl | rs535922252 |
geneview | rs535922252 |
scholar | rs535922252 |
rs535922252 | |
pharmgkb | rs535922252 |
gwascentral | rs535922252 |
openSNP | rs535922252 |
23andMe | rs535922252 |
SNPshot | rs535922252 |
SNPdbe | rs535922252 |
MSV3d | rs535922252 |
GWAS Ctlg | rs535922252 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs535922252(G;G) rs535922252(T;T) |
Alt | rs535922252(G;G) rs535922252(T;T) |
Reference | Rs535922252(A;A) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 6 |
Variation | info |
Gene | RPGRIP1 |
CLNDBN | Leber congenital amaurosis 6 |
Reversed | 0 |
HGVS | NC_000014.8:g.21792906A>T |
CLNSRC | ClinVar |
CLNACC | RCV000144462.1, |