rs137853251

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AAG;AAG)	0	common in clinvar
(I;I)	0	common genotype
(TAAG;TAAG)	0	common in clinvar

Make rs137853251(-;-)

Make rs137853251(-;G)

Make rs137853251(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

19358953

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs137853251
dbSNP (classic)	rs137853251
ClinGen	rs137853251
ebi	rs137853251
HLI	rs137853251
Exac	rs137853251
Gnomad	rs137853251
Varsome	rs137853251
LitVar	rs137853251
Map	rs137853251
PheGenI	rs137853251
Biobank	rs137853251
1000 genomes	rs137853251
hgdp	rs137853251
ensembl	rs137853251
geneview	rs137853251
scholar	rs137853251
google	rs137853251
pharmgkb	rs137853251
gwascentral	rs137853251
openSNP	rs137853251
23andMe	rs137853251
SNPshot	rs137853251
SNPdbe	rs137853251
MSV3d	rs137853251
GWAS Ctlg	rs137853251

Max Magnitude

0

OMIM	300502
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137853251(-;-)
Alt	rs137853251(-;-)
Reference	Rs137853251(AAG;AAG)
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.19377071_19377073delAAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011621.4,