rs724159830

Orientation

plus

Stabilized

plus

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

Make rs724159830(A;A)

Make rs724159830(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

34984569

Gene

PDHX

is a	snp
is	mentioned by
dbSNP	rs724159830
dbSNP (classic)	rs724159830
ClinGen	rs724159830
ebi	rs724159830
HLI	rs724159830
Exac	rs724159830
Gnomad	rs724159830
Varsome	rs724159830
LitVar	rs724159830
Map	rs724159830
PheGenI	rs724159830
Biobank	rs724159830
1000 genomes	rs724159830
hgdp	rs724159830
ensembl	rs724159830
geneview	rs724159830
scholar	rs724159830
google	rs724159830
pharmgkb	rs724159830
gwascentral	rs724159830
openSNP	rs724159830
23andMe	rs724159830
SNPshot	rs724159830
SNPdbe	rs724159830
MSV3d	rs724159830
GWAS Ctlg	rs724159830

Max Magnitude

0

ClinVar
Risk	rs724159830(A;A)
Alt	rs724159830(A;A)
Reference	Rs724159830(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.35006116G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002196.3,