rs137853258

Orientation

plus

Stabilized

plus

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

Make rs137853258(A;A)

Make rs137853258(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

19357683

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs137853258
dbSNP (classic)	rs137853258
ClinGen	rs137853258
ebi	rs137853258
HLI	rs137853258
Exac	rs137853258
Gnomad	rs137853258
Varsome	rs137853258
LitVar	rs137853258
Map	rs137853258
PheGenI	rs137853258
Biobank	rs137853258
1000 genomes	rs137853258
hgdp	rs137853258
ensembl	rs137853258
geneview	rs137853258
scholar	rs137853258
google	rs137853258
pharmgkb	rs137853258
gwascentral	rs137853258
openSNP	rs137853258
23andMe	rs137853258
SNPshot	rs137853258
SNPdbe	rs137853258
MSV3d	rs137853258
GWAS Ctlg	rs137853258

Max Magnitude

0

OMIM	300502
Desc
Variant	0020
Related	also

ClinVar
Risk	rs137853258(A;A)
Alt	rs137853258(A;A)
Reference	Rs137853258(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.19375801G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011637.8,