rs527236126
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs527236126(C;T) |
Make rs527236126(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 215650692 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs527236126 |
dbSNP (classic) | rs527236126 |
ClinGen | rs527236126 |
ebi | rs527236126 |
HLI | rs527236126 |
Exac | rs527236126 |
Gnomad | rs527236126 |
Varsome | rs527236126 |
LitVar | rs527236126 |
Map | rs527236126 |
PheGenI | rs527236126 |
Biobank | rs527236126 |
1000 genomes | rs527236126 |
hgdp | rs527236126 |
ensembl | rs527236126 |
geneview | rs527236126 |
scholar | rs527236126 |
rs527236126 | |
pharmgkb | rs527236126 |
gwascentral | rs527236126 |
openSNP | rs527236126 |
23andMe | rs527236126 |
SNPshot | rs527236126 |
SNPdbe | rs527236126 |
MSV3d | rs527236126 |
GWAS Ctlg | rs527236126 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236126(T;T) |
Alt | rs527236126(T;T) |
Reference | Rs527236126(C;C) |
Significance | Probable-Pathogenic |
Disease | Retinitis pigmentosa Leber congenital amaurosis |
Variation | info |
Gene | USH2A |
CLNDBN | Retinitis pigmentosa Leber congenital amaurosis |
Reversed | 1 |
HGVS | NC_000001.10:g.215824034G>A |
CLNSRC | ClinVar |
CLNACC | RCV000132706.1, RCV000144482.1, |