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rs763494292

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs763494292(A;A)
Make rs763494292(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position23820545
GeneHMGCL
is asnp
is mentioned by
dbSNPrs763494292
ebirs763494292
HLIrs763494292
Exacrs763494292
Varsomers763494292
Maprs763494292
PheGenIrs763494292
hapmaprs763494292
1000 genomesrs763494292
hgdprs763494292
ensemblrs763494292
gopubmedrs763494292
geneviewrs763494292
scholarrs763494292
googlers763494292
pharmgkbrs763494292
gwascentralrs763494292
openSNPrs763494292
23andMers763494292
23andMe allrs763494292
SNP Nexus

SNPshotrs763494292
SNPdbers763494292
MSV3drs763494292
GWAS Ctlgrs763494292
Max Magnitude0
ClinVar
Risk rs763494292(A;A)
Alt rs763494292(A;A)
Reference rs763494292(C;C)
Significance Pathogenic
Disease Deficiency of hydroxymethylglutaryl-CoA lyase
Variation info
Gene HMGCL
CLNDBN Deficiency of hydroxymethylglutaryl-CoA lyase
Reversed 0
HGVS NC_000001.10:g.24147035C>A
CLNSRC
CLNACC RCV000175544.1,