rs28937320

Orientation

minus

Stabilized

minus

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

Make rs28937320(A;A)

Make rs28937320(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

119764571

Gene

HMGCS2

is a	snp
is	mentioned by
dbSNP	rs28937320
dbSNP (classic)	rs28937320
ClinGen	rs28937320
ebi	rs28937320
HLI	rs28937320
Exac	rs28937320
Gnomad	rs28937320
Varsome	rs28937320
LitVar	rs28937320
Map	rs28937320
PheGenI	rs28937320
Biobank	rs28937320
1000 genomes	rs28937320
hgdp	rs28937320
ensembl	rs28937320
geneview	rs28937320
scholar	rs28937320
google	rs28937320
pharmgkb	rs28937320
gwascentral	rs28937320
openSNP	rs28937320
23andMe	rs28937320
SNPshot	rs28937320
SNPdbe	rs28937320
MSV3d	rs28937320
GWAS Ctlg	rs28937320

Max Magnitude

0

OMIM	600234
Desc	HMG-CoA SYNTHASE DEFICIENCY
Variant	0005
Related	also

ClinVar
Risk	rs28937320(A;A)
Alt	rs28937320(A;A)
Reference	Rs28937320(G;G)
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.120307194C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009843.4,