rs137853256

Orientation

plus

Stabilized

plus

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

Make rs137853256(A;A)

Make rs137853256(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

19358959

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs137853256
dbSNP (classic)	rs137853256
ClinGen	rs137853256
ebi	rs137853256
HLI	rs137853256
Exac	rs137853256
Gnomad	rs137853256
Varsome	rs137853256
LitVar	rs137853256
Map	rs137853256
PheGenI	rs137853256
Biobank	rs137853256
1000 genomes	rs137853256
hgdp	rs137853256
ensembl	rs137853256
geneview	rs137853256
scholar	rs137853256
google	rs137853256
pharmgkb	rs137853256
gwascentral	rs137853256
openSNP	rs137853256
23andMe	rs137853256
SNPshot	rs137853256
SNPdbe	rs137853256
MSV3d	rs137853256
GWAS Ctlg	rs137853256

Max Magnitude

0

OMIM	300502
Desc
Variant	0014
Related	also

ClinVar
Risk	rs137853256(A;A)
Alt	rs137853256(A;A)
Reference	Rs137853256(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.19377077G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011631.7,