rs724159829

Orientation

plus

Stabilized

plus

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

Make rs724159829(A;A)

Make rs724159829(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

34960519

Gene

PDHX

is a	snp
is	mentioned by
dbSNP	rs724159829
dbSNP (classic)	rs724159829
ClinGen	rs724159829
ebi	rs724159829
HLI	rs724159829
Exac	rs724159829
Gnomad	rs724159829
Varsome	rs724159829
LitVar	rs724159829
Map	rs724159829
PheGenI	rs724159829
Biobank	rs724159829
1000 genomes	rs724159829
hgdp	rs724159829
ensembl	rs724159829
geneview	rs724159829
scholar	rs724159829
google	rs724159829
pharmgkb	rs724159829
gwascentral	rs724159829
openSNP	rs724159829
23andMe	rs724159829
SNPshot	rs724159829
SNPdbe	rs724159829
MSV3d	rs724159829
GWAS Ctlg	rs724159829

Max Magnitude

0

ClinVar
Risk	rs724159829(A;A)
Alt	rs724159829(A;A)
Reference	Rs724159829(G;G)
Significance	Pathogenic
Disease	Pyruvate dehydrogenase E3-binding protein deficiency
Variation	info
Gene	PDHX
CLNDBN	Pyruvate dehydrogenase E3-binding protein deficiency
Reversed	0
HGVS	NC_000011.9:g.34982066G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002195.3,