rs137853254

Orientation

plus

Stabilized

plus

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

Make rs137853254(C;G)

Make rs137853254(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

19355360

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs137853254
dbSNP (classic)	rs137853254
ClinGen	rs137853254
ebi	rs137853254
HLI	rs137853254
Exac	rs137853254
Gnomad	rs137853254
Varsome	rs137853254
LitVar	rs137853254
Map	rs137853254
PheGenI	rs137853254
Biobank	rs137853254
1000 genomes	rs137853254
hgdp	rs137853254
ensembl	rs137853254
geneview	rs137853254
scholar	rs137853254
google	rs137853254
pharmgkb	rs137853254
gwascentral	rs137853254
openSNP	rs137853254
23andMe	rs137853254
SNPshot	rs137853254
SNPdbe	rs137853254
MSV3d	rs137853254
GWAS Ctlg	rs137853254

Max Magnitude

0

OMIM	300502
Desc
Variant	0012
Related	also

ClinVar
Risk	rs137853254(G;G) rs137853254(T;T)
Alt	rs137853254(G;G) rs137853254(T;T)
Reference	Rs137853254(C;C)
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.19373478C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011629.11,