rs606231184

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGTC;AGTC)	0	common in clinvar
(CAGT;CAGT)	0	common in clinvar
(I;I)	0	common genotype

Make rs606231184(-;-)

Make rs606231184(-;CAGT)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

19359647

Gene	MAP3K15, PDHA1

is a	snp
is	mentioned by
dbSNP	rs606231184
dbSNP (classic)	rs606231184
ClinGen	rs606231184
ebi	rs606231184
HLI	rs606231184
Exac	rs606231184
Gnomad	rs606231184
Varsome	rs606231184
LitVar	rs606231184
Map	rs606231184
PheGenI	rs606231184
Biobank	rs606231184
1000 genomes	rs606231184
hgdp	rs606231184
ensembl	rs606231184
geneview	rs606231184
scholar	rs606231184
google	rs606231184
pharmgkb	rs606231184
gwascentral	rs606231184
openSNP	rs606231184
23andMe	rs606231184
SNPshot	rs606231184
SNPdbe	rs606231184
MSV3d	rs606231184
GWAS Ctlg	rs606231184

Max Magnitude

0

ClinVar
Risk	rs606231184(-;-) Rs606231184(AGTC;AGTC)
Alt	rs606231184(-;-) Rs606231184(AGTC;AGTC)
Reference	Rs606231184(CAGT;CAGT)
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.19377765_19377768delCAGT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011618.3,