rs627441

Orientation

minus

Stabilized

minus

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

Make rs627441(A;G)

Make rs627441(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112037438

Gene

DLAT

is a	snp
is	mentioned by
dbSNP	rs627441
dbSNP (classic)	rs627441
ClinGen	rs627441
ebi	rs627441
HLI	rs627441
Exac	rs627441
Gnomad	rs627441
Varsome	rs627441
LitVar	rs627441
Map	rs627441
PheGenI	rs627441
Biobank	rs627441
1000 genomes	rs627441
hgdp	rs627441
ensembl	rs627441
geneview	rs627441
scholar	rs627441
google	rs627441
pharmgkb	rs627441
gwascentral	rs627441
openSNP	rs627441
23andMe	rs627441
SNPshot	rs627441
SNPdbe	rs627441
MSV3d	rs627441
GWAS Ctlg	rs627441

GMAF

0.483

Max Magnitude

0

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

ClinVar
Risk	rs627441(C;C) rs627441(G;G)
Alt	rs627441(C;C) rs627441(G;G)
Reference	Rs627441(A;A)
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.111908162T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000116879.2, RCV000283948.1,