rs886042089

Orientation

plus

Stabilized

plus

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

Chromosome

X

Position

19355385

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs886042089
dbSNP (classic)	rs886042089
ClinGen	rs886042089
ebi	rs886042089
HLI	rs886042089
Exac	rs886042089
Gnomad	rs886042089
Varsome	rs886042089
LitVar	rs886042089
Map	rs886042089
PheGenI	rs886042089
Biobank	rs886042089
1000 genomes	rs886042089
hgdp	rs886042089
ensembl	rs886042089
geneview	rs886042089
scholar	rs886042089
google	rs886042089
pharmgkb	rs886042089
gwascentral	rs886042089
openSNP	rs886042089
23andMe	rs886042089
SNPshot	rs886042089
SNPdbe	rs886042089
MSV3d	rs886042089
GWAS Ctlg	rs886042089

Max Magnitude

0

ClinVar
Risk	rs886042089(C;C)
Alt	rs886042089(C;C)
Reference	Rs886042089(T;T)
Significance	Probable-Pathogenic
Disease	Pyruvate dehydrogenase E1-alpha deficiency
Variation	info
Gene	PDHA1
CLNDBN	Pyruvate dehydrogenase E1-alpha deficiency
Reversed	0
HGVS	NC_000023.10:g.19373503T>C
CLNSRC
CLNACC	RCV000292563.1,