rs29001665

Orientation

minus

Stabilized

minus

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

Make rs29001665(C;T)

Make rs29001665(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

132331293

Gene

SETX

is a	snp
is	mentioned by
dbSNP	rs29001665
dbSNP (classic)	rs29001665
ClinGen	rs29001665
ebi	rs29001665
HLI	rs29001665
Exac	rs29001665
Gnomad	rs29001665
Varsome	rs29001665
LitVar	rs29001665
Map	rs29001665
PheGenI	rs29001665
Biobank	rs29001665
1000 genomes	rs29001665
hgdp	rs29001665
ensembl	rs29001665
geneview	rs29001665
scholar	rs29001665
google	rs29001665
pharmgkb	rs29001665
gwascentral	rs29001665
openSNP	rs29001665
23andMe	rs29001665
SNPshot	rs29001665
SNPdbe	rs29001665
MSV3d	rs29001665
GWAS Ctlg	rs29001665

Max Magnitude

0

OMIM	608465
Desc	ATAXIA-OCULAR APRAXIA 2
Variant	0005
Related	also

ClinVar
Risk	rs29001665(T;T)
Alt	rs29001665(T;T)
Reference	Rs29001665(C;C)
Significance	Pathogenic
Disease	Spinocerebellar ataxia autosomal recessive 1 not provided
Variation	info
Gene	SETX
CLNDBN	Spinocerebellar ataxia autosomal recessive 1 not provided
Reversed	1
HGVS	NC_000009.11:g.135206680G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002378.3, RCV000269785.1,