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rs121964996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964996(C;C)
Make rs121964996(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position23817520
GeneHMGCL
is asnp
is mentioned by
dbSNPrs121964996
ebirs121964996
HLIrs121964996
Exacrs121964996
Varsomers121964996
Maprs121964996
PheGenIrs121964996
hapmaprs121964996
1000 genomesrs121964996
hgdprs121964996
ensemblrs121964996
gopubmedrs121964996
geneviewrs121964996
scholarrs121964996
googlers121964996
pharmgkbrs121964996
gwascentralrs121964996
openSNPrs121964996
23andMers121964996
23andMe allrs121964996
SNP Nexus

SNPshotrs121964996
SNPdbers121964996
MSV3drs121964996
GWAS Ctlgrs121964996
Max Magnitude0
OMIM246450
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121964996(C;C)
Alt rs121964996(C;C)
Reference rs121964996(G;G)
Significance Pathogenic
Disease Deficiency of hydroxymethylglutaryl-CoA lyase
Variation info
Gene HMGCL
CLNDBN Deficiency of hydroxymethylglutaryl-CoA lyase
Reversed 1
HGVS NC_000001.10:g.24144010C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012733.2,