rs144076460

Orientation

plus

Stabilized

plus

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

Make rs144076460(A;A)

Make rs144076460(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

32989874

Gene

APTX

is a	snp
is	mentioned by
dbSNP	rs144076460
dbSNP (classic)	rs144076460
ClinGen	rs144076460
ebi	rs144076460
HLI	rs144076460
Exac	rs144076460
Gnomad	rs144076460
Varsome	rs144076460
LitVar	rs144076460
Map	rs144076460
PheGenI	rs144076460
Biobank	rs144076460
1000 genomes	rs144076460
hgdp	rs144076460
ensembl	rs144076460
geneview	rs144076460
scholar	rs144076460
google	rs144076460
pharmgkb	rs144076460
gwascentral	rs144076460
openSNP	rs144076460
23andMe	rs144076460
SNPshot	rs144076460
SNPdbe	rs144076460
MSV3d	rs144076460
GWAS Ctlg	rs144076460

Max Magnitude

0

ClinVar
Risk	rs144076460(A;A)
Alt	rs144076460(A;A)
Reference	Rs144076460(C;C)
Significance	Probable-Pathogenic
Disease	not provided Ataxia with Oculomotor Apraxia Coenzyme Q10 deficiency
Variation	info
Gene	APTX
CLNDBN	not provided Ataxia with Oculomotor Apraxia Coenzyme Q10 deficiency, Oculomotor Apraxia Type
Reversed	0
HGVS	NC_000009.11:g.32989872C>A
CLNSRC
CLNACC	RCV000200146.2, RCV000274167.1, RCV000357224.1,