rs137853250

Orientation

plus

Stabilized

plus

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

Make rs137853250(A;A)

Make rs137853250(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

19359613

Gene	MAP3K15, PDHA1

is a	snp
is	mentioned by
dbSNP	rs137853250
dbSNP (classic)	rs137853250
ClinGen	rs137853250
ebi	rs137853250
HLI	rs137853250
Exac	rs137853250
Gnomad	rs137853250
Varsome	rs137853250
LitVar	rs137853250
Map	rs137853250
PheGenI	rs137853250
Biobank	rs137853250
1000 genomes	rs137853250
hgdp	rs137853250
ensembl	rs137853250
geneview	rs137853250
scholar	rs137853250
google	rs137853250
pharmgkb	rs137853250
gwascentral	rs137853250
openSNP	rs137853250
23andMe	rs137853250
SNPshot	rs137853250
SNPdbe	rs137853250
MSV3d	rs137853250
GWAS Ctlg	rs137853250

Max Magnitude

0

OMIM	300502
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137853250(A;A) rs137853250(T;T)
Alt	rs137853250(A;A) rs137853250(T;T)
Reference	Rs137853250(G;G)
Significance	Pathogenic
Disease	Pyruvate dehydrogenase E1-alpha deficiency not specified
Variation	info
Gene	PDHA1 MAP3K15
CLNDBN	Pyruvate dehydrogenase E1-alpha deficiency not specified
Reversed	0
HGVS	NC_000023.10:g.19377731G>A; NC_000023.10:g.19377731G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011620.10, RCV000323139.1,