rs137853259

Orientation

plus

Stabilized

plus

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

Make rs137853259(C;G)

Make rs137853259(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

19355713

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs137853259
dbSNP (classic)	rs137853259
ClinGen	rs137853259
ebi	rs137853259
HLI	rs137853259
Exac	rs137853259
Gnomad	rs137853259
Varsome	rs137853259
LitVar	rs137853259
Map	rs137853259
PheGenI	rs137853259
Biobank	rs137853259
1000 genomes	rs137853259
hgdp	rs137853259
ensembl	rs137853259
geneview	rs137853259
scholar	rs137853259
google	rs137853259
pharmgkb	rs137853259
gwascentral	rs137853259
openSNP	rs137853259
23andMe	rs137853259
SNPshot	rs137853259
SNPdbe	rs137853259
MSV3d	rs137853259
GWAS Ctlg	rs137853259

Max Magnitude

0

OMIM	300502
Desc
Variant	0022
Related	also

ClinVar
Risk	rs137853259(G;G)
Alt	rs137853259(G;G)
Reference	Rs137853259(C;C)
Significance	Pathogenic
Disease	Pyruvate dehydrogenase E1-alpha deficiency not provided
Variation	info
Gene	PDHA1
CLNDBN	Pyruvate dehydrogenase E1-alpha deficiency not provided
Reversed	0
HGVS	NC_000023.10:g.19373831C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011625.5, RCV000196576.2,