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rs121964997

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964997(A;A)
Make rs121964997(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position23820532
GeneHMGCL
is asnp
is mentioned by
dbSNPrs121964997
ebirs121964997
HLIrs121964997
Exacrs121964997
Varsomers121964997
Maprs121964997
PheGenIrs121964997
hapmaprs121964997
1000 genomesrs121964997
hgdprs121964997
ensemblrs121964997
gopubmedrs121964997
geneviewrs121964997
scholarrs121964997
googlers121964997
pharmgkbrs121964997
gwascentralrs121964997
openSNPrs121964997
23andMers121964997
23andMe allrs121964997
SNP Nexus

SNPshotrs121964997
SNPdbers121964997
MSV3drs121964997
GWAS Ctlgrs121964997
Max Magnitude0
OMIM246450
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121964997(A;A)
Alt rs121964997(A;A)
Reference rs121964997(G;G)
Significance Pathogenic
Disease Deficiency of hydroxymethylglutaryl-CoA lyase not provided
Variation info
Gene HMGCL
CLNDBN Deficiency of hydroxymethylglutaryl-CoA lyase not provided
Reversed 1
HGVS NC_000001.10:g.24147022C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012735.3, RCV000078342.4,