rs75134564

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common on affy axiom data

Make rs75134564(A;A)

Make rs75134564(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

41862656

Gene

OXCT1

is a	snp
is	mentioned by
dbSNP	rs75134564
dbSNP (classic)	rs75134564
ClinGen	rs75134564
ebi	rs75134564
HLI	rs75134564
Exac	rs75134564
Gnomad	rs75134564
Varsome	rs75134564
LitVar	rs75134564
Map	rs75134564
PheGenI	rs75134564
Biobank	rs75134564
1000 genomes	rs75134564
hgdp	rs75134564
ensembl	rs75134564
geneview	rs75134564
scholar	rs75134564
google	rs75134564
pharmgkb	rs75134564
gwascentral	rs75134564
openSNP	rs75134564
23andMe	rs75134564
SNPshot	rs75134564
SNPdbe	rs75134564
MSV3d	rs75134564
GWAS Ctlg	rs75134564

GMAF

0.003214

Max Magnitude

0

OMIM	601424
Desc
Variant	0003
Related	also

ClinVar
Risk	rs75134564(A;A)
Alt	rs75134564(A;A)
Reference	Rs75134564(G;G)
Significance	Pathogenic
Disease	Succinyl-CoA acetoacetate transferase deficiency
Variation	info
Gene	OXCT1
CLNDBN	Succinyl-CoA acetoacetate transferase deficiency
Reversed	0
HGVS	NC_000005.9:g.41862758G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008643.3,