rs794729213

Orientation

plus

Stabilized

plus

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

Make rs794729213(A;A)

Make rs794729213(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

19353085

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs794729213
dbSNP (classic)	rs794729213
ClinGen	rs794729213
ebi	rs794729213
HLI	rs794729213
Exac	rs794729213
Gnomad	rs794729213
Varsome	rs794729213
LitVar	rs794729213
Map	rs794729213
PheGenI	rs794729213
Biobank	rs794729213
1000 genomes	rs794729213
hgdp	rs794729213
ensembl	rs794729213
geneview	rs794729213
scholar	rs794729213
google	rs794729213
pharmgkb	rs794729213
gwascentral	rs794729213
openSNP	rs794729213
23andMe	rs794729213
SNPshot	rs794729213
SNPdbe	rs794729213
MSV3d	rs794729213
GWAS Ctlg	rs794729213

Max Magnitude

0

ClinVar
Risk	rs794729213(A;A)
Alt	rs794729213(A;A)
Reference	Rs794729213(G;G)
Significance	Pathogenic
Disease	Pyruvate dehydrogenase E1-alpha deficiency
Variation	info
Gene	PDHA1
CLNDBN	Pyruvate dehydrogenase E1-alpha deficiency
Reversed	0
HGVS	NC_000023.10:g.19371203G>A
CLNSRC
CLNACC	RCV000184034.1,