rs121908132

Orientation

minus

Stabilized

minus

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

Make rs121908132(G;G)

Make rs121908132(G;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

32974544

Gene

APTX

is a	snp
is	mentioned by
dbSNP	rs121908132
dbSNP (classic)	rs121908132
ClinGen	rs121908132
ebi	rs121908132
HLI	rs121908132
Exac	rs121908132
Gnomad	rs121908132
Varsome	rs121908132
LitVar	rs121908132
Map	rs121908132
PheGenI	rs121908132
Biobank	rs121908132
1000 genomes	rs121908132
hgdp	rs121908132
ensembl	rs121908132
geneview	rs121908132
scholar	rs121908132
google	rs121908132
pharmgkb	rs121908132
gwascentral	rs121908132
openSNP	rs121908132
23andMe	rs121908132
SNPshot	rs121908132
SNPdbe	rs121908132
MSV3d	rs121908132
GWAS Ctlg	rs121908132

Max Magnitude

0

OMIM	606350
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908132(G;G)
Alt	rs121908132(G;G)
Reference	Rs121908132(T;T)
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.32974542A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004678.2,