rs137852636

Orientation

minus

Stabilized

minus

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

Make rs137852636(C;C)

Make rs137852636(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

119764211

Gene

HMGCS2

is a	snp
is	mentioned by
dbSNP	rs137852636
dbSNP (classic)	rs137852636
ClinGen	rs137852636
ebi	rs137852636
HLI	rs137852636
Exac	rs137852636
Gnomad	rs137852636
Varsome	rs137852636
LitVar	rs137852636
Map	rs137852636
PheGenI	rs137852636
Biobank	rs137852636
1000 genomes	rs137852636
hgdp	rs137852636
ensembl	rs137852636
geneview	rs137852636
scholar	rs137852636
google	rs137852636
pharmgkb	rs137852636
gwascentral	rs137852636
openSNP	rs137852636
23andMe	rs137852636
SNPshot	rs137852636
SNPdbe	rs137852636
MSV3d	rs137852636
GWAS Ctlg	rs137852636

Max Magnitude

0

OMIM	600234
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137852636(C;C)
Alt	rs137852636(C;C)
Reference	Rs137852636(T;T)
Significance	Pathogenic
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.120306834A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009839.3,