rs121917898

Orientation

plus

Stabilized

plus

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

Make rs121917898(A;C)

Make rs121917898(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

19355393

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs121917898
dbSNP (classic)	rs121917898
ClinGen	rs121917898
ebi	rs121917898
HLI	rs121917898
Exac	rs121917898
Gnomad	rs121917898
Varsome	rs121917898
LitVar	rs121917898
Map	rs121917898
PheGenI	rs121917898
Biobank	rs121917898
1000 genomes	rs121917898
hgdp	rs121917898
ensembl	rs121917898
geneview	rs121917898
scholar	rs121917898
google	rs121917898
pharmgkb	rs121917898
gwascentral	rs121917898
openSNP	rs121917898
23andMe	rs121917898
SNPshot	rs121917898
SNPdbe	rs121917898
MSV3d	rs121917898
GWAS Ctlg	rs121917898

Max Magnitude

0

ClinVar
Risk	rs121917898(C;C)
Alt	rs121917898(C;C)
Reference	Rs121917898(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.19373511A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011640.10,