rs2229137

Orientation

plus

Stabilized

plus

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

Make rs2229137(A;C)

Make rs2229137(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

19357664

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs2229137
dbSNP (classic)	rs2229137
ClinGen	rs2229137
ebi	rs2229137
HLI	rs2229137
Exac	rs2229137
Gnomad	rs2229137
Varsome	rs2229137
LitVar	rs2229137
Map	rs2229137
PheGenI	rs2229137
Biobank	rs2229137
1000 genomes	rs2229137
hgdp	rs2229137
ensembl	rs2229137
geneview	rs2229137
scholar	rs2229137
google	rs2229137
pharmgkb	rs2229137
gwascentral	rs2229137
openSNP	rs2229137
23andMe	rs2229137
SNPshot	rs2229137
SNPdbe	rs2229137
MSV3d	rs2229137
GWAS Ctlg	rs2229137

Merged from

Rs3810710

GMAF

0.05865

Max Magnitude

0

?	(A;A) (A;C) (C;C)	28

OMIM	300502
Desc
Variant	0015
Related	also

ClinVar
Risk	rs2229137(C;C)
Alt	rs2229137(C;C)
Reference	Rs2229137(A;A)
Significance	Pathogenic
Disease	Pyruvate dehydrogenase E1-alpha deficiency not specified not provided
Variation	info
Gene	PDHA1
CLNDBN	Pyruvate dehydrogenase E1-alpha deficiency not specified not provided
Reversed	0
HGVS	NC_000023.10:g.19375782A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011632.6, RCV000127400.1, RCV000224670.1,