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rs121964998

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964998(A;A)
Make rs121964998(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position23804441
GeneHMGCL
is asnp
is mentioned by
dbSNPrs121964998
ebirs121964998
HLIrs121964998
Exacrs121964998
Varsomers121964998
Maprs121964998
PheGenIrs121964998
hapmaprs121964998
1000 genomesrs121964998
hgdprs121964998
ensemblrs121964998
gopubmedrs121964998
geneviewrs121964998
scholarrs121964998
googlers121964998
pharmgkbrs121964998
gwascentralrs121964998
openSNPrs121964998
23andMers121964998
23andMe allrs121964998
SNP Nexus

SNPshotrs121964998
SNPdbers121964998
MSV3drs121964998
GWAS Ctlgrs121964998
Merged fromRs28934894
Max Magnitude0
OMIM246450
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121964998(A;A)
Alt rs121964998(A;A)
Reference rs121964998(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.24130931C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012736.3,