rs121909303

Orientation

minus

Stabilized

minus

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

Make rs121909303(A;A)

Make rs121909303(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

41842685

Gene

OXCT1

is a	snp
is	mentioned by
dbSNP	rs121909303
dbSNP (classic)	rs121909303
ClinGen	rs121909303
ebi	rs121909303
HLI	rs121909303
Exac	rs121909303
Gnomad	rs121909303
Varsome	rs121909303
LitVar	rs121909303
Map	rs121909303
PheGenI	rs121909303
Biobank	rs121909303
1000 genomes	rs121909303
hgdp	rs121909303
ensembl	rs121909303
geneview	rs121909303
scholar	rs121909303
google	rs121909303
pharmgkb	rs121909303
gwascentral	rs121909303
openSNP	rs121909303
23andMe	rs121909303
SNPshot	rs121909303
SNPdbe	rs121909303
MSV3d	rs121909303
GWAS Ctlg	rs121909303

Max Magnitude

0

OMIM	601424
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121909303(A;A)
Alt	rs121909303(A;A)
Reference	Rs121909303(G;G)
Significance	Pathogenic
Disease	Succinyl-CoA acetoacetate transferase deficiency
Variation	info
Gene	OXCT1
CLNDBN	Succinyl-CoA acetoacetate transferase deficiency
Reversed	1
HGVS	NC_000005.9:g.41842787C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008646.3,