rs121908133

Orientation

minus

Stabilized

minus

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

Make rs121908133(A;G)

Make rs121908133(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

32984799

Gene

APTX

is a	snp
is	mentioned by
dbSNP	rs121908133
dbSNP (classic)	rs121908133
ClinGen	rs121908133
ebi	rs121908133
HLI	rs121908133
Exac	rs121908133
Gnomad	rs121908133
Varsome	rs121908133
LitVar	rs121908133
Map	rs121908133
PheGenI	rs121908133
Biobank	rs121908133
1000 genomes	rs121908133
hgdp	rs121908133
ensembl	rs121908133
geneview	rs121908133
scholar	rs121908133
google	rs121908133
pharmgkb	rs121908133
gwascentral	rs121908133
openSNP	rs121908133
23andMe	rs121908133
SNPshot	rs121908133
SNPdbe	rs121908133
MSV3d	rs121908133
GWAS Ctlg	rs121908133

Max Magnitude

0

OMIM	606350
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908133(G;G)
Alt	rs121908133(G;G)
Reference	Rs121908133(A;A)
Significance	Pathogenic
Disease	Adult onset ataxia with oculomotor apraxia
Variation	info
Gene	APTX
CLNDBN	Adult onset ataxia with oculomotor apraxia
Reversed	1
HGVS	NC_000009.11:g.32984797T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004679.2,