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rs397704714

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397704714(-;-)
Make rs397704714(-;TAAGAGC)
Make rs397704714(TAAGAGC;TAAGAGC)
ReferenceGRCh38 38.1/141
Chromosome20
Position25307980
GeneABHD12
is asnp
is mentioned by
dbSNPrs397704714
ebirs397704714
HLIrs397704714
Exacrs397704714
Varsomers397704714
Maprs397704714
PheGenIrs397704714
hapmaprs397704714
1000 genomesrs397704714
hgdprs397704714
ensemblrs397704714
gopubmedrs397704714
geneviewrs397704714
scholarrs397704714
googlers397704714
pharmgkbrs397704714
gwascentralrs397704714
openSNPrs397704714
23andMers397704714
23andMe allrs397704714
SNP Nexus

SNPshotrs397704714
SNPdbers397704714
MSV3drs397704714
GWAS Ctlgrs397704714
Max Magnitude0
ClinVar
Risk rs397704714(TAAGAGC;TAAGAGC)
Alt rs397704714(TAAGAGC;TAAGAGC)
Reference rs397704714(;)
Significance Pathogenic
Disease Polyneuropathy
Variation info
Gene ABHD12
CLNDBN Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Reversed 1
HGVS NC_000020.10:g.25288617_25288623dupGCTCTTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000043.3,