rs606231192

Orientation

plus

Stabilized

plus

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

Make rs606231192(-;AGTCAATGAAAT)

Make rs606231192(AGTCAATGAAAT;AGTCAATGAAAT)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

19359743

Gene	MAP3K15, PDHA1

is a	snp
is	mentioned by
dbSNP	rs606231192
dbSNP (classic)	rs606231192
ClinGen	rs606231192
ebi	rs606231192
HLI	rs606231192
Exac	rs606231192
Gnomad	rs606231192
Varsome	rs606231192
LitVar	rs606231192
Map	rs606231192
PheGenI	rs606231192
Biobank	rs606231192
1000 genomes	rs606231192
hgdp	rs606231192
ensembl	rs606231192
geneview	rs606231192
scholar	rs606231192
google	rs606231192
pharmgkb	rs606231192
gwascentral	rs606231192
openSNP	rs606231192
23andMe	rs606231192
SNPshot	rs606231192
SNPdbe	rs606231192
MSV3d	rs606231192
GWAS Ctlg	rs606231192

Max Magnitude

0

ClinVar
Risk	rs606231192(AGTCAATGAAAT;AGTCAATGAAAT) rs606231192(TCAATGAAATTCTTGGAAAC;TCAATGAAATTCTTGGAAAC)
Alt	rs606231192(AGTCAATGAAAT;AGTCAATGAAAT) rs606231192(TCAATGAAATTCTTGGAAAC;TCAATGAAATTCTTGGAAAC)
Reference	Rs606231192(-;-)
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.19377850_19377861dupAGTCAATGAAAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011638.8,