rs606231188

Orientation

plus

Stabilized

plus

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

Make rs606231188(-;TAGTTACCGTACACGAGAAGA)

Make rs606231188(TAGTTACCGTACACGAGAAGA;TAGTTACCGTACACGAGAAGA)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

19358933

Gene

PDHA1

is a	snp
is	mentioned by
dbSNP	rs606231188
dbSNP (classic)	rs606231188
ClinGen	rs606231188
ebi	rs606231188
HLI	rs606231188
Exac	rs606231188
Gnomad	rs606231188
Varsome	rs606231188
LitVar	rs606231188
Map	rs606231188
PheGenI	rs606231188
Biobank	rs606231188
1000 genomes	rs606231188
hgdp	rs606231188
ensembl	rs606231188
geneview	rs606231188
scholar	rs606231188
google	rs606231188
pharmgkb	rs606231188
gwascentral	rs606231188
openSNP	rs606231188
23andMe	rs606231188
SNPshot	rs606231188
SNPdbe	rs606231188
MSV3d	rs606231188
GWAS Ctlg	rs606231188

Max Magnitude

0

ClinVar
Risk	rs606231188(ATAGTTACCGTACACGAGAAG;ATAGTTACCGTACACGAGAAG)
Alt	rs606231188(ATAGTTACCGTACACGAGAAG;ATAGTTACCGTACACGAGAAG)
Reference	Rs606231188(-;-)
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.19377031_19377051dup21
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011624.10,