rs121908131

Orientation

minus

Stabilized

minus

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

Make rs121908131(C;T)

Make rs121908131(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

32984784

Gene

APTX

is a	snp
is	mentioned by
dbSNP	rs121908131
dbSNP (classic)	rs121908131
ClinGen	rs121908131
ebi	rs121908131
HLI	rs121908131
Exac	rs121908131
Gnomad	rs121908131
Varsome	rs121908131
LitVar	rs121908131
Map	rs121908131
PheGenI	rs121908131
Biobank	rs121908131
1000 genomes	rs121908131
hgdp	rs121908131
ensembl	rs121908131
geneview	rs121908131
scholar	rs121908131
google	rs121908131
pharmgkb	rs121908131
gwascentral	rs121908131
openSNP	rs121908131
23andMe	rs121908131
SNPshot	rs121908131
SNPdbe	rs121908131
MSV3d	rs121908131
GWAS Ctlg	rs121908131

Max Magnitude

0

OMIM	606350
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908131(T;T)
Alt	rs121908131(T;T)
Reference	Rs121908131(C;C)
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.32984782G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004676.2,