rs121909301

Orientation

minus

Stabilized

minus

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

Make rs121909301(A;A)

Make rs121909301(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

41803148

Gene

OXCT1

is a	snp
is	mentioned by
dbSNP	rs121909301
dbSNP (classic)	rs121909301
ClinGen	rs121909301
ebi	rs121909301
HLI	rs121909301
Exac	rs121909301
Gnomad	rs121909301
Varsome	rs121909301
LitVar	rs121909301
Map	rs121909301
PheGenI	rs121909301
Biobank	rs121909301
1000 genomes	rs121909301
hgdp	rs121909301
ensembl	rs121909301
geneview	rs121909301
scholar	rs121909301
google	rs121909301
pharmgkb	rs121909301
gwascentral	rs121909301
openSNP	rs121909301
23andMe	rs121909301
SNPshot	rs121909301
SNPdbe	rs121909301
MSV3d	rs121909301
GWAS Ctlg	rs121909301

Max Magnitude

0

OMIM	601424
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121909301(A;A)
Alt	rs121909301(A;A)
Reference	Rs121909301(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.41803250C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008644.3,