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rs786200864

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786200864(G;G)
Make rs786200864(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position190294639
GeneHIBCH
is asnp
is mentioned by
dbSNPrs786200864
ebirs786200864
HLIrs786200864
Exacrs786200864
Varsomers786200864
Maprs786200864
PheGenIrs786200864
hapmaprs786200864
1000 genomesrs786200864
hgdprs786200864
ensemblrs786200864
gopubmedrs786200864
geneviewrs786200864
scholarrs786200864
googlers786200864
pharmgkbrs786200864
gwascentralrs786200864
openSNPrs786200864
23andMers786200864
23andMe allrs786200864
SNP Nexus

SNPshotrs786200864
SNPdbers786200864
MSV3drs786200864
GWAS Ctlgrs786200864
Max Magnitude0
ClinVar
Risk rs786200864(G;G)
Alt rs786200864(G;G)
Reference rs786200864(T;T)
Significance Pathogenic
Disease Beta-hydroxyisobutyryl-CoA deacylase deficiency
Variation info
Gene HIBCH
CLNDBN Beta-hydroxyisobutyryl-CoA deacylase deficiency
Reversed 1
HGVS NC_000002.11:g.191159365A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001203.3,