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rs587777602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777602(C;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position25302260
GeneABHD12
is asnp
is mentioned by
dbSNPrs587777602
ebirs587777602
HLIrs587777602
Exacrs587777602
Varsomers587777602
Maprs587777602
PheGenIrs587777602
hapmaprs587777602
1000 genomesrs587777602
hgdprs587777602
ensemblrs587777602
gopubmedrs587777602
geneviewrs587777602
scholarrs587777602
googlers587777602
pharmgkbrs587777602
gwascentralrs587777602
openSNPrs587777602
23andMers587777602
23andMe allrs587777602
SNP Nexus

SNPshotrs587777602
SNPdbers587777602
MSV3drs587777602
GWAS Ctlgrs587777602
Max Magnitude0
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,