rs137853255

Orientation

plus

Stabilized

plus

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

Make rs137853255(A;A)

Make rs137853255(A;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

19355472

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs137853255
dbSNP (classic)	rs137853255
ClinGen	rs137853255
ebi	rs137853255
HLI	rs137853255
Exac	rs137853255
Gnomad	rs137853255
Varsome	rs137853255
LitVar	rs137853255
Map	rs137853255
PheGenI	rs137853255
Biobank	rs137853255
1000 genomes	rs137853255
hgdp	rs137853255
ensembl	rs137853255
geneview	rs137853255
scholar	rs137853255
google	rs137853255
pharmgkb	rs137853255
gwascentral	rs137853255
openSNP	rs137853255
23andMe	rs137853255
SNPshot	rs137853255
SNPdbe	rs137853255
MSV3d	rs137853255
GWAS Ctlg	rs137853255

Max Magnitude

0

OMIM	300502
Desc
Variant	0013
Related	also

ClinVar
Risk	rs137853255(A;A)
Alt	rs137853255(A;A)
Reference	Rs137853255(T;T)
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.19373590T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011630.3,