rs606231190

Orientation

plus

Stabilized

plus

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

Make rs606231190(-;T)

Make rs606231190(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

19357681

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs606231190
dbSNP (classic)	rs606231190
ClinGen	rs606231190
ebi	rs606231190
HLI	rs606231190
Exac	rs606231190
Gnomad	rs606231190
Varsome	rs606231190
LitVar	rs606231190
Map	rs606231190
PheGenI	rs606231190
Biobank	rs606231190
1000 genomes	rs606231190
hgdp	rs606231190
ensembl	rs606231190
geneview	rs606231190
scholar	rs606231190
google	rs606231190
pharmgkb	rs606231190
gwascentral	rs606231190
openSNP	rs606231190
23andMe	rs606231190
SNPshot	rs606231190
SNPdbe	rs606231190
MSV3d	rs606231190
GWAS Ctlg	rs606231190

Max Magnitude

0

ClinVar
Risk	rs606231190(T;T) rs606231190(TTAC;TTAC)
Alt	rs606231190(T;T) rs606231190(TTAC;TTAC)
Reference	Rs606231190(-;-)
Significance	Pathogenic
Disease	not provided Pyruvate dehydrogenase E1-alpha deficiency
Variation	info
Gene	PDHA1
CLNDBN	not provided Pyruvate dehydrogenase E1-alpha deficiency
Reversed	0
HGVS	NC_000023.10:g.19375796_19375799dupTTAC; NC_000023.10:g.19375799_19375800insT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000413173.1, RCV000011633.11,