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rs786204004

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204004(A;A)
Make rs786204004(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position190213017
GeneHIBCH
is asnp
is mentioned by
dbSNPrs786204004
ebirs786204004
HLIrs786204004
Exacrs786204004
Varsomers786204004
Maprs786204004
PheGenIrs786204004
hapmaprs786204004
1000 genomesrs786204004
hgdprs786204004
ensemblrs786204004
gopubmedrs786204004
geneviewrs786204004
scholarrs786204004
googlers786204004
pharmgkbrs786204004
gwascentralrs786204004
openSNPrs786204004
23andMers786204004
23andMe allrs786204004
SNP Nexus

SNPshotrs786204004
SNPdbers786204004
MSV3drs786204004
GWAS Ctlgrs786204004
Max Magnitude0
ClinVar
Risk rs786204004(A;A)
Alt rs786204004(A;A)
Reference rs786204004(G;G)
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.191077743C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000167584.3,