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rs122461163

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs122461163(A;G)
Make rs122461163(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53431450
GeneHSD17B10, RIBC1
is asnp
is mentioned by
dbSNPrs122461163
ebirs122461163
HLIrs122461163
Exacrs122461163
Varsomers122461163
Maprs122461163
PheGenIrs122461163
hapmaprs122461163
1000 genomesrs122461163
hgdprs122461163
ensemblrs122461163
gopubmedrs122461163
geneviewrs122461163
scholarrs122461163
googlers122461163
pharmgkbrs122461163
gwascentralrs122461163
openSNPrs122461163
23andMers122461163
23andMe allrs122461163
SNP Nexus

SNPshotrs122461163
SNPdbers122461163
MSV3drs122461163
GWAS Ctlgrs122461163
Max Magnitude0
OMIM300256
Desc
Variant0003
Relatedalso
ClinVar
Risk rs122461163(G;G)
Alt rs122461163(G;G)
Reference rs122461163(A;A)
Significance Pathogenic
Disease 2-methyl-3-hydroxybutyric aciduria
Variation info
Gene HSD17B10 RIBC1
CLNDBN 2-methyl-3-hydroxybutyric aciduria
Reversed 1
HGVS NC_000023.10:g.53458398T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012197.20,