rs606231191

Orientation

plus

Stabilized

plus

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

Make rs606231191(-;GCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC)

Make rs606231191(GCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC;GCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

19359589

Gene	MAP3K15, PDHA1

is a	snp
is	mentioned by
dbSNP	rs606231191
dbSNP (classic)	rs606231191
ClinGen	rs606231191
ebi	rs606231191
HLI	rs606231191
Exac	rs606231191
Gnomad	rs606231191
Varsome	rs606231191
LitVar	rs606231191
Map	rs606231191
PheGenI	rs606231191
Biobank	rs606231191
1000 genomes	rs606231191
hgdp	rs606231191
ensembl	rs606231191
geneview	rs606231191
scholar	rs606231191
google	rs606231191
pharmgkb	rs606231191
gwascentral	rs606231191
openSNP	rs606231191
23andMe	rs606231191
SNPshot	rs606231191
SNPdbe	rs606231191
MSV3d	rs606231191
GWAS Ctlg	rs606231191

Max Magnitude

0

ClinVar
Risk	rs606231191(GCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC;GCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC)
Alt	rs606231191(GCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC;GCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC)
Reference	Rs606231191(-;-)
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.19377672_19377707dup36
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011636.5,