rs137852637

Orientation

minus

Stabilized

minus

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

Make rs137852637(C;T)

Make rs137852637(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

119753304

Gene

HMGCS2

is a	snp
is	mentioned by
dbSNP	rs137852637
dbSNP (classic)	rs137852637
ClinGen	rs137852637
ebi	rs137852637
HLI	rs137852637
Exac	rs137852637
Gnomad	rs137852637
Varsome	rs137852637
LitVar	rs137852637
Map	rs137852637
PheGenI	rs137852637
Biobank	rs137852637
1000 genomes	rs137852637
hgdp	rs137852637
ensembl	rs137852637
geneview	rs137852637
scholar	rs137852637
google	rs137852637
pharmgkb	rs137852637
gwascentral	rs137852637
openSNP	rs137852637
23andMe	rs137852637
SNPshot	rs137852637
SNPdbe	rs137852637
MSV3d	rs137852637
GWAS Ctlg	rs137852637

Max Magnitude

0

OMIM	600234
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852637(T;T)
Alt	rs137852637(T;T)
Reference	Rs137852637(C;C)
Significance	Other
Disease	mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Variation	info
Gene	HMGCS2
CLNDBN	mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Reversed	1
HGVS	NC_000001.10:g.120295927G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009840.4,