rs201527662
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs201527662(A;C) |
Make rs201527662(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 216246592 |
Gene | USH2A |
is a | snp |
is | mentioned by |
dbSNP | rs201527662 |
dbSNP (classic) | rs201527662 |
ClinGen | rs201527662 |
ebi | rs201527662 |
HLI | rs201527662 |
Exac | rs201527662 |
Gnomad | rs201527662 |
Varsome | rs201527662 |
LitVar | rs201527662 |
Map | rs201527662 |
PheGenI | rs201527662 |
Biobank | rs201527662 |
1000 genomes | rs201527662 |
hgdp | rs201527662 |
ensembl | rs201527662 |
geneview | rs201527662 |
scholar | rs201527662 |
rs201527662 | |
pharmgkb | rs201527662 |
gwascentral | rs201527662 |
openSNP | rs201527662 |
23andMe | rs201527662 |
SNPshot | rs201527662 |
SNPdbe | rs201527662 |
MSV3d | rs201527662 |
GWAS Ctlg | rs201527662 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201527662(C;C) |
Alt | rs201527662(C;C) |
Reference | Rs201527662(A;A) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | USH2A |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000001.10:g.216419934A>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000132710.1, |