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rs770114459

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs770114459(C;T)
Make rs770114459(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position190208892
GeneHIBCH
is asnp
is mentioned by
dbSNPrs770114459
ebirs770114459
HLIrs770114459
Exacrs770114459
Varsomers770114459
Maprs770114459
PheGenIrs770114459
hapmaprs770114459
1000 genomesrs770114459
hgdprs770114459
ensemblrs770114459
gopubmedrs770114459
geneviewrs770114459
scholarrs770114459
googlers770114459
pharmgkbrs770114459
gwascentralrs770114459
openSNPrs770114459
23andMers770114459
23andMe allrs770114459
SNP Nexus

SNPshotrs770114459
SNPdbers770114459
MSV3drs770114459
GWAS Ctlgrs770114459
Max Magnitude0
ClinVar
Risk rs770114459(T;T)
Alt rs770114459(T;T)
Reference rs770114459(C;C)
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.191073618C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190538.2,