rs587777602
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587777602(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 25302260 |
Gene | ABHD12 |
is a | snp |
is | mentioned by |
dbSNP | rs587777602 |
dbSNP (classic) | rs587777602 |
ClinGen | rs587777602 |
ebi | rs587777602 |
HLI | rs587777602 |
Exac | rs587777602 |
Gnomad | rs587777602 |
Varsome | rs587777602 |
LitVar | rs587777602 |
Map | rs587777602 |
PheGenI | rs587777602 |
Biobank | rs587777602 |
1000 genomes | rs587777602 |
hgdp | rs587777602 |
ensembl | rs587777602 |
geneview | rs587777602 |
scholar | rs587777602 |
rs587777602 | |
pharmgkb | rs587777602 |
gwascentral | rs587777602 |
openSNP | rs587777602 |
23andMe | rs587777602 |
SNPshot | rs587777602 |
SNPdbe | rs587777602 |
MSV3d | rs587777602 |
GWAS Ctlg | rs587777602 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777602(G;G) |
Alt | Rs587777602(G;G) |
Reference | Rs587777602(C;C) |
Significance | Pathogenic |
Disease | Polyneuropathy |
Variation | info |
Gene | ABHD12 |
CLNDBN | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
Reversed | 1 |
HGVS | NC_000020.10:g.25282896G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000132767.2, |