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rs121918329

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918329(A;G)
Make rs121918329(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position190290425
GeneHIBCH
is asnp
is mentioned by
dbSNPrs121918329
ebirs121918329
HLIrs121918329
Exacrs121918329
Varsomers121918329
Maprs121918329
PheGenIrs121918329
hapmaprs121918329
1000 genomesrs121918329
hgdprs121918329
ensemblrs121918329
gopubmedrs121918329
geneviewrs121918329
scholarrs121918329
googlers121918329
pharmgkbrs121918329
gwascentralrs121918329
openSNPrs121918329
23andMers121918329
23andMe allrs121918329
SNP Nexus

SNPshotrs121918329
SNPdbers121918329
MSV3drs121918329
GWAS Ctlgrs121918329
Max Magnitude0
OMIM610690
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918329(G;G)
Alt rs121918329(G;G)
Reference rs121918329(A;A)
Significance Pathogenic
Disease Beta-hydroxyisobutyryl-CoA deacylase deficiency not provided
Variation info
Gene HIBCH
CLNDBN Beta-hydroxyisobutyryl-CoA deacylase deficiency not provided
Reversed 1
HGVS NC_000002.11:g.191155151T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001204.3, RCV000224374.1,