rs121964998

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121964998(A;A)

Make rs121964998(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23804441

Gene

HMGCL

is a	snp
is	mentioned by
dbSNP	rs121964998
dbSNP (classic)	rs121964998
ClinGen	rs121964998
ebi	rs121964998
HLI	rs121964998
Exac	rs121964998
Gnomad	rs121964998
Varsome	rs121964998
LitVar	rs121964998
Map	rs121964998
PheGenI	rs121964998
Biobank	rs121964998
1000 genomes	rs121964998
hgdp	rs121964998
ensembl	rs121964998
geneview	rs121964998
scholar	rs121964998
google	rs121964998
pharmgkb	rs121964998
gwascentral	rs121964998
openSNP	rs121964998
23andMe	rs121964998
SNPshot	rs121964998
SNPdbe	rs121964998
MSV3d	rs121964998
GWAS Ctlg	rs121964998

Merged from

Rs28934894

Max Magnitude

0

OMIM	246450
Desc
Variant	0005
Related	also

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 UniProtKB (protein)
CLNACC	RCV000012736.3,