rs606231185

Orientation

plus

Stabilized

plus

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

Make rs606231185(-;-)

Make rs606231185(-;AGTAAGA)

Make rs606231185(AGTAAGA;AGTAAGA)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

19358950

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs606231185
dbSNP (classic)	rs606231185
ClinGen	rs606231185
ebi	rs606231185
HLI	rs606231185
Exac	rs606231185
Gnomad	rs606231185
Varsome	rs606231185
LitVar	rs606231185
Map	rs606231185
PheGenI	rs606231185
Biobank	rs606231185
1000 genomes	rs606231185
hgdp	rs606231185
ensembl	rs606231185
geneview	rs606231185
scholar	rs606231185
google	rs606231185
pharmgkb	rs606231185
gwascentral	rs606231185
openSNP	rs606231185
23andMe	rs606231185
SNPshot	rs606231185
SNPdbe	rs606231185
MSV3d	rs606231185
GWAS Ctlg	rs606231185

Max Magnitude

0

ClinVar
Risk	rs606231185(-;-)
Alt	rs606231185(-;-)
Reference	Rs606231185(GAAGTAA;GAAGTAA)
Significance	Pathogenic
Disease	Pyruvate dehydrogenase E1-alpha deficiency
Variation	info
Gene	PDHA1
CLNDBN	Pyruvate dehydrogenase E1-alpha deficiency
Reversed	0
HGVS	NC_000023.10:g.19377068_19377074delAGTAAGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011619.10,