rs606231186

Orientation

plus

Stabilized

plus

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

Make rs606231186(-;-)

Make rs606231186(-;AA)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

19359639

Gene	MAP3K15, PDHA1

is a	snp
is	mentioned by
dbSNP	rs606231186
dbSNP (classic)	rs606231186
ClinGen	rs606231186
ebi	rs606231186
HLI	rs606231186
Exac	rs606231186
Gnomad	rs606231186
Varsome	rs606231186
LitVar	rs606231186
Map	rs606231186
PheGenI	rs606231186
Biobank	rs606231186
1000 genomes	rs606231186
hgdp	rs606231186
ensembl	rs606231186
geneview	rs606231186
scholar	rs606231186
google	rs606231186
pharmgkb	rs606231186
gwascentral	rs606231186
openSNP	rs606231186
23andMe	rs606231186
SNPshot	rs606231186
SNPdbe	rs606231186
MSV3d	rs606231186
GWAS Ctlg	rs606231186

Max Magnitude

0

ClinVar
Risk	rs606231186(-;-)
Alt	rs606231186(-;-)
Reference	Rs606231186(AA;AA)
Significance	Pathogenic
Disease	Pyruvate dehydrogenase E1-alpha deficiency
Variation	info
Gene	PDHA1 MAP3K15
CLNDBN	Pyruvate dehydrogenase E1-alpha deficiency
Reversed	0
HGVS	NC_000023.10:g.19377757_19377758delAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011622.4,