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rs886041974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
ChromosomeX
Position53431556
GeneHSD17B10, RIBC1
is asnp
is mentioned by
dbSNPrs886041974
dbSNP (classic)rs886041974
ClinGenrs886041974
ebirs886041974
HLIrs886041974
Exacrs886041974
Gnomadrs886041974
Varsomers886041974
LitVarrs886041974
Maprs886041974
PheGenIrs886041974
Biobankrs886041974
1000 genomesrs886041974
hgdprs886041974
ensemblrs886041974
geneviewrs886041974
scholarrs886041974
googlers886041974
pharmgkbrs886041974
gwascentralrs886041974
openSNPrs886041974
23andMers886041974
SNPshotrs886041974
SNPdbers886041974
MSV3drs886041974
GWAS Ctlgrs886041974
Max Magnitude0
ClinVar
Risk rs886041974(G;G)
Alt rs886041974(G;G)
Reference Rs886041974(A;A)
Significance Pathogenic
Disease not provided 2-methyl-3-hydroxybutyric aciduria
Variation info
Gene HSD17B10 RIBC1
CLNDBN not provided 2-methyl-3-hydroxybutyric aciduria
Reversed 1
HGVS NC_000023.10:g.53458504T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000365072.1, RCV000488602.1,