rs121909299

Orientation

minus

Stabilized

minus

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

Make rs121909299(C;G)

Make rs121909299(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

41805674

Gene

OXCT1

is a	snp
is	mentioned by
dbSNP	rs121909299
dbSNP (classic)	rs121909299
ClinGen	rs121909299
ebi	rs121909299
HLI	rs121909299
Exac	rs121909299
Gnomad	rs121909299
Varsome	rs121909299
LitVar	rs121909299
Map	rs121909299
PheGenI	rs121909299
Biobank	rs121909299
1000 genomes	rs121909299
hgdp	rs121909299
ensembl	rs121909299
geneview	rs121909299
scholar	rs121909299
google	rs121909299
pharmgkb	rs121909299
gwascentral	rs121909299
openSNP	rs121909299
23andMe	rs121909299
SNPshot	rs121909299
SNPdbe	rs121909299
MSV3d	rs121909299
GWAS Ctlg	rs121909299

Max Magnitude

0

OMIM	601424
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909299(G;G)
Alt	rs121909299(G;G)
Reference	Rs121909299(C;C)
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.41805776G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008641.3,