rs724159979

Orientation

plus

Stabilized

plus

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

Make rs724159979(-;-)

Make rs724159979(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

34960497

Gene

PDHX

is a	snp
is	mentioned by
dbSNP	rs724159979
dbSNP (classic)	rs724159979
ClinGen	rs724159979
ebi	rs724159979
HLI	rs724159979
Exac	rs724159979
Gnomad	rs724159979
Varsome	rs724159979
LitVar	rs724159979
Map	rs724159979
PheGenI	rs724159979
Biobank	rs724159979
1000 genomes	rs724159979
hgdp	rs724159979
ensembl	rs724159979
geneview	rs724159979
scholar	rs724159979
google	rs724159979
pharmgkb	rs724159979
gwascentral	rs724159979
openSNP	rs724159979
23andMe	rs724159979
SNPshot	rs724159979
SNPdbe	rs724159979
MSV3d	rs724159979
GWAS Ctlg	rs724159979

Max Magnitude

0

ClinVar
Risk	rs724159979(-;-)
Alt	rs724159979(-;-)
Reference	Rs724159979(C;C)
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.34982044delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002197.3,