rs606231189

Orientation

plus

Stabilized

plus

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

Make rs606231189(-;ATCA)

Make rs606231189(ATCA;ATCA)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

19359625

Gene	MAP3K15, PDHA1

is a	snp
is	mentioned by
dbSNP	rs606231189
dbSNP (classic)	rs606231189
ClinGen	rs606231189
ebi	rs606231189
HLI	rs606231189
Exac	rs606231189
Gnomad	rs606231189
Varsome	rs606231189
LitVar	rs606231189
Map	rs606231189
PheGenI	rs606231189
Biobank	rs606231189
1000 genomes	rs606231189
hgdp	rs606231189
ensembl	rs606231189
geneview	rs606231189
scholar	rs606231189
google	rs606231189
pharmgkb	rs606231189
gwascentral	rs606231189
openSNP	rs606231189
23andMe	rs606231189
SNPshot	rs606231189
SNPdbe	rs606231189
MSV3d	rs606231189
GWAS Ctlg	rs606231189

Max Magnitude

0

ClinVar
Risk	rs606231189(CAAT;CAAT)
Alt	rs606231189(CAAT;CAAT)
Reference	Rs606231189(-;-)
Significance	Pathogenic
Disease	Pyruvate dehydrogenase E1-alpha deficiency not provided
Variation	info
Gene	PDHA1 MAP3K15
CLNDBN	Pyruvate dehydrogenase E1-alpha deficiency not provided
Reversed	0
HGVS	NC_000023.10:g.19377740_19377743dupATCA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011627.8, RCV000199126.1,