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rs752137615

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs752137615(-;-)
Make rs752137615(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position23817521
GeneHMGCL
is asnp
is mentioned by
dbSNPrs752137615
ebirs752137615
HLIrs752137615
Exacrs752137615
Varsomers752137615
Maprs752137615
PheGenIrs752137615
hapmaprs752137615
1000 genomesrs752137615
hgdprs752137615
ensemblrs752137615
gopubmedrs752137615
geneviewrs752137615
scholarrs752137615
googlers752137615
pharmgkbrs752137615
gwascentralrs752137615
openSNPrs752137615
23andMers752137615
23andMe allrs752137615
SNP Nexus

SNPshotrs752137615
SNPdbers752137615
MSV3drs752137615
GWAS Ctlgrs752137615
Max Magnitude0
ClinVar
Risk rs752137615(;)
Alt rs752137615(;)
Reference rs752137615(AG;AG)
Significance Pathogenic
Disease Deficiency of hydroxymethylglutaryl-CoA lyase not provided
Variation info
Gene HMGCL
CLNDBN Deficiency of hydroxymethylglutaryl-CoA lyase not provided
Reversed 0
HGVS NC_000001.10:g.24144011_24144012delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000012732.4, RCV000185970.1,