rs267606930

Orientation

minus

Stabilized

minus

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

Make rs267606930(A;A)

Make rs267606930(A;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

41853435

Gene

OXCT1

is a	snp
is	mentioned by
dbSNP	rs267606930
dbSNP (classic)	rs267606930
ClinGen	rs267606930
ebi	rs267606930
HLI	rs267606930
Exac	rs267606930
Gnomad	rs267606930
Varsome	rs267606930
LitVar	rs267606930
Map	rs267606930
PheGenI	rs267606930
Biobank	rs267606930
1000 genomes	rs267606930
hgdp	rs267606930
ensembl	rs267606930
geneview	rs267606930
scholar	rs267606930
google	rs267606930
pharmgkb	rs267606930
gwascentral	rs267606930
openSNP	rs267606930
23andMe	rs267606930
SNPshot	rs267606930
SNPdbe	rs267606930
MSV3d	rs267606930
GWAS Ctlg	rs267606930

Max Magnitude

0

ClinVar
Risk	rs267606930(A;A)
Alt	rs267606930(A;A)
Reference	Rs267606930(T;T)
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.41853537A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008643.3,