rs137853257

Orientation

plus

Stabilized

plus

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

Make rs137853257(C;C)

Make rs137853257(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

19344066

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs137853257
dbSNP (classic)	rs137853257
ClinGen	rs137853257
ebi	rs137853257
HLI	rs137853257
Exac	rs137853257
Gnomad	rs137853257
Varsome	rs137853257
LitVar	rs137853257
Map	rs137853257
PheGenI	rs137853257
Biobank	rs137853257
1000 genomes	rs137853257
hgdp	rs137853257
ensembl	rs137853257
geneview	rs137853257
scholar	rs137853257
google	rs137853257
pharmgkb	rs137853257
gwascentral	rs137853257
openSNP	rs137853257
23andMe	rs137853257
SNPshot	rs137853257
SNPdbe	rs137853257
MSV3d	rs137853257
GWAS Ctlg	rs137853257

Max Magnitude

0

OMIM	300502
Desc
Variant	0017
Related	also

ClinVar
Risk	rs137853257(C;C)
Alt	rs137853257(C;C)
Reference	Rs137853257(G;G)
Significance	Pathogenic
Disease	Pyruvate dehydrogenase E1-alpha deficiency
Variation	info
Gene	PDHA1
CLNDBN	Pyruvate dehydrogenase E1-alpha deficiency
Reversed	0
HGVS	NC_000023.10:g.19362184G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011634.4,