rs113309941

Orientation

plus

Stabilized

plus

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

Make rs113309941(C;T)

Make rs113309941(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

34966740

Gene

PDHX

is a	snp
is	mentioned by
dbSNP	rs113309941
dbSNP (classic)	rs113309941
ClinGen	rs113309941
ebi	rs113309941
HLI	rs113309941
Exac	rs113309941
Gnomad	rs113309941
Varsome	rs113309941
LitVar	rs113309941
Map	rs113309941
PheGenI	rs113309941
Biobank	rs113309941
1000 genomes	rs113309941
hgdp	rs113309941
ensembl	rs113309941
geneview	rs113309941
scholar	rs113309941
google	rs113309941
pharmgkb	rs113309941
gwascentral	rs113309941
openSNP	rs113309941
23andMe	rs113309941
SNPshot	rs113309941
SNPdbe	rs113309941
MSV3d	rs113309941
GWAS Ctlg	rs113309941

Max Magnitude

0

OMIM	608769
Desc
Variant	0008
Related	also

ClinVar
Risk	rs113309941(G;G) rs113309941(T;T)
Alt	rs113309941(G;G) rs113309941(T;T)
Reference	Rs113309941(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.34988287C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002199.3,