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rs863225062

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225062(-;T)
Make rs863225062(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position190205149
GeneHIBCH
is asnp
is mentioned by
dbSNPrs863225062
dbSNP (old)rs863225062
ClinGenrs863225062
ebirs863225062
HLIrs863225062
Exacrs863225062
Gnomadrs863225062
Varsomers863225062
Maprs863225062
PheGenIrs863225062
Biobankrs863225062
1000 genomesrs863225062
hgdprs863225062
ensemblrs863225062
gopubmedrs863225062
geneviewrs863225062
scholarrs863225062
googlers863225062
pharmgkbrs863225062
gwascentralrs863225062
openSNPrs863225062
23andMers863225062
23andMe allrs863225062
SNP Nexus

SNPshotrs863225062
SNPdbers863225062
MSV3drs863225062
GWAS Ctlgrs863225062
Max Magnitude0
ClinVar
Risk rs863225062(T;T)
Alt rs863225062(T;T)
Reference Rs863225062(-;-)
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.191069876dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000201262.2,