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rs778922921

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs778922921(A;A)
Make rs778922921(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position190296956
GeneHIBCH
is asnp
is mentioned by
dbSNPrs778922921
ebirs778922921
HLIrs778922921
Exacrs778922921
Varsomers778922921
Maprs778922921
PheGenIrs778922921
hapmaprs778922921
1000 genomesrs778922921
hgdprs778922921
ensemblrs778922921
gopubmedrs778922921
geneviewrs778922921
scholarrs778922921
googlers778922921
pharmgkbrs778922921
gwascentralrs778922921
openSNPrs778922921
23andMers778922921
23andMe allrs778922921
SNP Nexus

SNPshotrs778922921
SNPdbers778922921
MSV3drs778922921
GWAS Ctlgrs778922921
Max Magnitude0
ClinVar
Risk rs778922921(A,C;A,C)
Alt rs778922921(A,C;A,C)
Reference rs778922921(G;G)
Significance Pathogenic
Disease Beta-hydroxyisobutyryl-CoA deacylase deficiency
Variation info
Gene HIBCH
CLNDBN Beta-hydroxyisobutyryl-CoA deacylase deficiency
Reversed 0
HGVS NC_000002.11:g.191161682G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001205.3,