rs62636273
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs62636273(A;A) |
Make rs62636273(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 197429460 |
Gene | CRB1 |
is a | snp |
is | mentioned by |
dbSNP | rs62636273 |
dbSNP (classic) | rs62636273 |
ClinGen | rs62636273 |
ebi | rs62636273 |
HLI | rs62636273 |
Exac | rs62636273 |
Gnomad | rs62636273 |
Varsome | rs62636273 |
LitVar | rs62636273 |
Map | rs62636273 |
PheGenI | rs62636273 |
Biobank | rs62636273 |
1000 genomes | rs62636273 |
hgdp | rs62636273 |
ensembl | rs62636273 |
geneview | rs62636273 |
scholar | rs62636273 |
rs62636273 | |
pharmgkb | rs62636273 |
gwascentral | rs62636273 |
openSNP | rs62636273 |
23andMe | rs62636273 |
SNPshot | rs62636273 |
SNPdbe | rs62636273 |
MSV3d | rs62636273 |
GWAS Ctlg | rs62636273 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62636273(A;A) |
Alt | rs62636273(A;A) |
Reference | Rs62636273(T;T) |
Significance | Pathogenic |
Disease | not provided Leber congenital amaurosis 8 |
Variation | info |
Gene | CRB1 |
CLNDBN | not provided Leber congenital amaurosis 8 |
Reversed | 0 |
HGVS | NC_000001.10:g.197398590T>A |
CLNSRC | |
CLNACC | RCV000086328.1, RCV000180393.1, |