rs1057518702

Orientation

plus

Stabilized

plus

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

Make rs1057518702(A;G)

Make rs1057518702(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

19351258

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs1057518702
dbSNP (classic)	rs1057518702
ClinGen	rs1057518702
ebi	rs1057518702
HLI	rs1057518702
Exac	rs1057518702
Gnomad	rs1057518702
Varsome	rs1057518702
LitVar	rs1057518702
Map	rs1057518702
PheGenI	rs1057518702
Biobank	rs1057518702
1000 genomes	rs1057518702
hgdp	rs1057518702
ensembl	rs1057518702
geneview	rs1057518702
scholar	rs1057518702
google	rs1057518702
pharmgkb	rs1057518702
gwascentral	rs1057518702
openSNP	rs1057518702
23andMe	rs1057518702
SNPshot	rs1057518702
SNPdbe	rs1057518702
MSV3d	rs1057518702
GWAS Ctlg	rs1057518702

Max Magnitude

0

ClinVar
Risk	rs1057518702(G;G)
Alt	rs1057518702(G;G)
Reference	Rs1057518702(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.19369376A>G
CLNSRC
CLNACC	RCV000415131.1,