rs606231187

Orientation

plus

Stabilized

plus

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

Make rs606231187(-;-)

Make rs606231187(-;AGCCACCTTTGGAAGAGCTG)

Make rs606231187(AGCCACCTTTGGAAGAGCTG;AGCCACCTTTGGAAGAGCTG)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

19359553

Gene	MAP3K15, PDHA1

is a	snp
is	mentioned by
dbSNP	rs606231187
dbSNP (classic)	rs606231187
ClinGen	rs606231187
ebi	rs606231187
HLI	rs606231187
Exac	rs606231187
Gnomad	rs606231187
Varsome	rs606231187
LitVar	rs606231187
Map	rs606231187
PheGenI	rs606231187
Biobank	rs606231187
1000 genomes	rs606231187
hgdp	rs606231187
ensembl	rs606231187
geneview	rs606231187
scholar	rs606231187
google	rs606231187
pharmgkb	rs606231187
gwascentral	rs606231187
openSNP	rs606231187
23andMe	rs606231187
SNPshot	rs606231187
SNPdbe	rs606231187
MSV3d	rs606231187
GWAS Ctlg	rs606231187

Max Magnitude

0

ClinVar
Risk	rs606231187(-;-)
Alt	rs606231187(-;-)
Reference	Rs606231187(CTGAGCCACCTTTGGAAGAG;CTGAGCCACCTTTGGAAGAG)
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.19377671_19377690del20
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011623.11,