rs724159828

Orientation

plus

Stabilized

plus

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

Make rs724159828(-;-)

Make rs724159828(-;GAAG)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

34916742

Gene	APIP, PDHX

is a	snp
is	mentioned by
dbSNP	rs724159828
dbSNP (classic)	rs724159828
ClinGen	rs724159828
ebi	rs724159828
HLI	rs724159828
Exac	rs724159828
Gnomad	rs724159828
Varsome	rs724159828
LitVar	rs724159828
Map	rs724159828
PheGenI	rs724159828
Biobank	rs724159828
1000 genomes	rs724159828
hgdp	rs724159828
ensembl	rs724159828
geneview	rs724159828
scholar	rs724159828
google	rs724159828
pharmgkb	rs724159828
gwascentral	rs724159828
openSNP	rs724159828
23andMe	rs724159828
SNPshot	rs724159828
SNPdbe	rs724159828
MSV3d	rs724159828
GWAS Ctlg	rs724159828

Max Magnitude

0

ClinVar
Risk	rs724159828(-;-)
Alt	rs724159828(-;-)
Reference	Rs724159828(GAAG;GAAG)
Significance	Pathogenic
Disease	Pyruvate dehydrogenase E3-binding protein deficiency
Variation	info
Gene	APIP PDHX
CLNDBN	Pyruvate dehydrogenase E3-binding protein deficiency
Reversed	0
HGVS	NC_000011.9:g.34938289_34938292delGAAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002194.3,