rs137853252

Orientation

plus

Stabilized

plus

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

Make rs137853252(C;T)

Make rs137853252(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

19358920

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs137853252
dbSNP (classic)	rs137853252
ClinGen	rs137853252
ebi	rs137853252
HLI	rs137853252
Exac	rs137853252
Gnomad	rs137853252
Varsome	rs137853252
LitVar	rs137853252
Map	rs137853252
PheGenI	rs137853252
Biobank	rs137853252
1000 genomes	rs137853252
hgdp	rs137853252
ensembl	rs137853252
geneview	rs137853252
scholar	rs137853252
google	rs137853252
pharmgkb	rs137853252
gwascentral	rs137853252
openSNP	rs137853252
23andMe	rs137853252
SNPshot	rs137853252
SNPdbe	rs137853252
MSV3d	rs137853252
GWAS Ctlg	rs137853252

Max Magnitude

0

OMIM	300502
Desc
Variant	0009
Related	also

ClinVar
Risk	rs137853252(T;T)
Alt	rs137853252(T;T)
Reference	Rs137853252(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.19377038C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011626.4, RCV000199671.2,