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rs757976755

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs757976755(A;A)
Make rs757976755(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position190296836
GeneHIBCH
is asnp
is mentioned by
dbSNPrs757976755
ebirs757976755
HLIrs757976755
Exacrs757976755
Varsomers757976755
Maprs757976755
PheGenIrs757976755
hapmaprs757976755
1000 genomesrs757976755
hgdprs757976755
ensemblrs757976755
gopubmedrs757976755
geneviewrs757976755
scholarrs757976755
googlers757976755
pharmgkbrs757976755
gwascentralrs757976755
openSNPrs757976755
23andMers757976755
23andMe allrs757976755
SNP Nexus

SNPshotrs757976755
SNPdbers757976755
MSV3drs757976755
GWAS Ctlgrs757976755
Max Magnitude0
ClinVar
Risk rs757976755(A;A)
Alt rs757976755(A;A)
Reference rs757976755(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.191161562G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170481.3,