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rs587777603

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777603(C;T)
Make rs587777603(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position25320264
GeneABHD12
is asnp
is mentioned by
dbSNPrs587777603
dbSNP (classic)rs587777603
ClinGenrs587777603
ebirs587777603
HLIrs587777603
Exacrs587777603
Gnomadrs587777603
Varsomers587777603
LitVarrs587777603
Maprs587777603
PheGenIrs587777603
Biobankrs587777603
1000 genomesrs587777603
hgdprs587777603
ensemblrs587777603
geneviewrs587777603
scholarrs587777603
googlers587777603
pharmgkbrs587777603
gwascentralrs587777603
openSNPrs587777603
23andMers587777603
SNPshotrs587777603
SNPdbers587777603
MSV3drs587777603
GWAS Ctlgrs587777603
Max Magnitude0
ClinVar
Risk Rs587777603(C;C) rs587777603(T;T)
Alt Rs587777603(C;C) rs587777603(T;T)
Reference Rs587777603(G;G)
Significance Pathogenic
Disease Polyneuropathy
Variation info
Gene ABHD12
CLNDBN Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Reversed 1
HGVS NC_000020.10:g.25300900C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000132768.3,