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rs122462164

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122462164(A;A)
Make rs122462164(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53431819
GeneHSD17B10
is asnp
is mentioned by
dbSNPrs122462164
dbSNP (classic)rs122462164
ClinGenrs122462164
ebirs122462164
HLIrs122462164
Exacrs122462164
Gnomadrs122462164
Varsomers122462164
LitVarrs122462164
Maprs122462164
PheGenIrs122462164
Biobankrs122462164
1000 genomesrs122462164
hgdprs122462164
ensemblrs122462164
geneviewrs122462164
scholarrs122462164
googlers122462164
pharmgkbrs122462164
gwascentralrs122462164
openSNPrs122462164
23andMers122462164
SNPshotrs122462164
SNPdbers122462164
MSV3drs122462164
GWAS Ctlgrs122462164
Max Magnitude0
OMIM300256
Desc
Variant0004
Relatedalso
ClinVar
Risk rs122462164(A;A)
Alt rs122462164(A;A)
Reference Rs122462164(C;C)
Significance Pathogenic
Disease 2-methyl-3-hydroxybutyric aciduria
Variation info
Gene HSD17B10
CLNDBN 2-methyl-3-hydroxybutyric aciduria
Reversed 1
HGVS NC_000023.10:g.53458767G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012198.13,