rs587776593

Orientation

plus

Stabilized

plus

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

Make rs587776593(-;A)

Make rs587776593(A;A)

Reference

GRCh38 38.1/142

Chromosome

9

Position

32984712

Gene

APTX

is a	snp
is	mentioned by
dbSNP	rs587776593
dbSNP (classic)	rs587776593
ClinGen	rs587776593
ebi	rs587776593
HLI	rs587776593
Exac	rs587776593
Gnomad	rs587776593
Varsome	rs587776593
LitVar	rs587776593
Map	rs587776593
PheGenI	rs587776593
Biobank	rs587776593
1000 genomes	rs587776593
hgdp	rs587776593
ensembl	rs587776593
geneview	rs587776593
scholar	rs587776593
google	rs587776593
pharmgkb	rs587776593
gwascentral	rs587776593
openSNP	rs587776593
23andMe	rs587776593
SNPshot	rs587776593
SNPdbe	rs587776593
MSV3d	rs587776593
GWAS Ctlg	rs587776593

Max Magnitude

0

ClinVar
Risk	rs587776593(A;A)
Alt	rs587776593(A;A)
Reference	Rs587776593(-;-)
Significance	Pathogenic
Disease	Adult onset ataxia with oculomotor apraxia
Variation	info
Gene	APTX
CLNDBN	Adult onset ataxia with oculomotor apraxia
Reversed	0
HGVS	NC_000009.11:g.32984710dupA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004675.2,