rs137853253

Orientation

plus

Stabilized

plus

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

Make rs137853253(A;C)

Make rs137853253(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

19355699

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs137853253
dbSNP (classic)	rs137853253
ClinGen	rs137853253
ebi	rs137853253
HLI	rs137853253
Exac	rs137853253
Gnomad	rs137853253
Varsome	rs137853253
LitVar	rs137853253
Map	rs137853253
PheGenI	rs137853253
Biobank	rs137853253
1000 genomes	rs137853253
hgdp	rs137853253
ensembl	rs137853253
geneview	rs137853253
scholar	rs137853253
google	rs137853253
pharmgkb	rs137853253
gwascentral	rs137853253
openSNP	rs137853253
23andMe	rs137853253
SNPshot	rs137853253
SNPdbe	rs137853253
MSV3d	rs137853253
GWAS Ctlg	rs137853253

Max Magnitude

0

OMIM	300502
Desc
Variant	0011
Related	also

ClinVar
Risk	rs137853253(C;C)
Alt	rs137853253(C;C)
Reference	Rs137853253(A;A)
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.19373817A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011628.11,