Have questions? Visit https://www.reddit.com/r/SNPedia

rs387906217

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs387906217(GA;TTT)
Make rs387906217(TTT;TTT)
ReferenceGRCh38 38.1/141
Chromosome20
Position25323409
GeneABHD12
is asnp
is mentioned by
dbSNPrs387906217
ebirs387906217
HLIrs387906217
Exacrs387906217
Varsomers387906217
Maprs387906217
PheGenIrs387906217
hapmaprs387906217
1000 genomesrs387906217
hgdprs387906217
ensemblrs387906217
gopubmedrs387906217
geneviewrs387906217
scholarrs387906217
googlers387906217
pharmgkbrs387906217
gwascentralrs387906217
openSNPrs387906217
23andMers387906217
23andMe allrs387906217
SNP Nexus

SNPshotrs387906217
SNPdbers387906217
MSV3drs387906217
GWAS Ctlgrs387906217
Max Magnitude0
ClinVar
Risk rs387906217(TTTT,T;TTTT,T)
Alt rs387906217(TTTT,T;TTTT,T)
Reference rs387906217(GAT;GAT)
Significance Pathogenic
Disease Polyneuropathy
Variation info
Gene ABHD12
CLNDBN Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Reversed 1
HGVS NC_000020.10:g.25304045_25304046delTCinsAAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000041.2,