rs2303436

Orientation

minus

Stabilized

minus

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

Make rs2303436(A;A)

Make rs2303436(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112025600

Gene

DLAT

is a	snp
is	mentioned by
dbSNP	rs2303436
dbSNP (classic)	rs2303436
ClinGen	rs2303436
ebi	rs2303436
HLI	rs2303436
Exac	rs2303436
Gnomad	rs2303436
Varsome	rs2303436
LitVar	rs2303436
Map	rs2303436
PheGenI	rs2303436
Biobank	rs2303436
1000 genomes	rs2303436
hgdp	rs2303436
ensembl	rs2303436
geneview	rs2303436
scholar	rs2303436
google	rs2303436
pharmgkb	rs2303436
gwascentral	rs2303436
openSNP	rs2303436
23andMe	rs2303436
SNPshot	rs2303436
SNPdbe	rs2303436
MSV3d	rs2303436
GWAS Ctlg	rs2303436

GMAF

0.3792

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs2303436(A;A)
Alt	rs2303436(A;A)
Reference	Rs2303436(G;G)
Significance	Probable-non-pathogenic
Disease	not specified Pyruvate dehydrogenase complex deficiency
Variation	info
Gene	DLAT
CLNDBN	not specified Pyruvate dehydrogenase complex deficiency
Reversed	1
HGVS	NC_000011.9:g.111896324C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000116877.2, RCV000400627.1,