rs387906998

Orientation

plus

Stabilized

plus

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

Make rs387906998(A;A)

Make rs387906998(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

34916699

Gene	APIP, PDHX

is a	snp
is	mentioned by
dbSNP	rs387906998
dbSNP (classic)	rs387906998
ClinGen	rs387906998
ebi	rs387906998
HLI	rs387906998
Exac	rs387906998
Gnomad	rs387906998
Varsome	rs387906998
LitVar	rs387906998
Map	rs387906998
PheGenI	rs387906998
Biobank	rs387906998
1000 genomes	rs387906998
hgdp	rs387906998
ensembl	rs387906998
geneview	rs387906998
scholar	rs387906998
google	rs387906998
pharmgkb	rs387906998
gwascentral	rs387906998
openSNP	rs387906998
23andMe	rs387906998
SNPshot	rs387906998
SNPdbe	rs387906998
MSV3d	rs387906998
GWAS Ctlg	rs387906998

Max Magnitude

0

ClinVar
Risk	rs387906998(A;A)
Alt	rs387906998(A;A)
Reference	Rs387906998(G;G)
Significance	Pathogenic
Disease	Pyruvate dehydrogenase E3-binding protein deficiency not specified
Variation	info
Gene	APIP PDHX
CLNDBN	Pyruvate dehydrogenase E3-binding protein deficiency not specified
Reversed	0
HGVS	NC_000011.9:g.34938246G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023731.4, RCV000198591.2,