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rs267606624

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606624(C;T)
Make rs267606624(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position25302322
GeneABHD12
is asnp
is mentioned by
dbSNPrs267606624
ebirs267606624
HLIrs267606624
Exacrs267606624
Varsomers267606624
Maprs267606624
PheGenIrs267606624
hapmaprs267606624
1000 genomesrs267606624
hgdprs267606624
ensemblrs267606624
gopubmedrs267606624
geneviewrs267606624
scholarrs267606624
googlers267606624
pharmgkbrs267606624
gwascentralrs267606624
openSNPrs267606624
23andMers267606624
23andMe allrs267606624
SNP Nexus

SNPshotrs267606624
SNPdbers267606624
MSV3drs267606624
GWAS Ctlgrs267606624
Max Magnitude0
ClinVar
Risk rs267606624(T;T)
Alt rs267606624(T;T)
Reference rs267606624(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.25282958G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000044.3,