rs28935769

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(T;T)	0

Make rs28935769(A;G)

Make rs28935769(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

58430851

Gene

PDHB

is a	snp
is	mentioned by
dbSNP	rs28935769
dbSNP (classic)	rs28935769
ClinGen	rs28935769
ebi	rs28935769
HLI	rs28935769
Exac	rs28935769
Gnomad	rs28935769
Varsome	rs28935769
LitVar	rs28935769
Map	rs28935769
PheGenI	rs28935769
Biobank	rs28935769
1000 genomes	rs28935769
hgdp	rs28935769
ensembl	rs28935769
geneview	rs28935769
scholar	rs28935769
google	rs28935769
pharmgkb	rs28935769
gwascentral	rs28935769
openSNP	rs28935769
23andMe	rs28935769
SNPshot	rs28935769
SNPdbe	rs28935769
MSV3d	rs28935769
GWAS Ctlg	rs28935769

Max Magnitude

0

OMIM	179060
Desc	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY
Variant	0001
Related	also

ClinVar
Risk	rs28935769(G;G)
Alt	rs28935769(G;G)
Reference	Rs28935769(A;A)
Significance	Pathogenic
Disease	Pyruvate dehydrogenase E1-beta deficiency
Variation	info
Gene	PDHB
CLNDBN	Pyruvate dehydrogenase E1-beta deficiency
Reversed	1
HGVS	NC_000003.11:g.58416578T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014076.24,