rs28940290

Orientation

minus

Stabilized

minus

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

Make rs28940290(C;T)

Make rs28940290(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

132281483

Gene

SETX

is a	snp
is	mentioned by
dbSNP	rs28940290
dbSNP (classic)	rs28940290
ClinGen	rs28940290
ebi	rs28940290
HLI	rs28940290
Exac	rs28940290
Gnomad	rs28940290
Varsome	rs28940290
LitVar	rs28940290
Map	rs28940290
PheGenI	rs28940290
Biobank	rs28940290
1000 genomes	rs28940290
hgdp	rs28940290
ensembl	rs28940290
geneview	rs28940290
scholar	rs28940290
google	rs28940290
pharmgkb	rs28940290
gwascentral	rs28940290
openSNP	rs28940290
23andMe	rs28940290
SNPshot	rs28940290
SNPdbe	rs28940290
MSV3d	rs28940290
GWAS Ctlg	rs28940290

Max Magnitude

0

OMIM	608465
Desc	ATAXIA-OCULAR APRAXIA 2
Variant	0003
Related	also

ClinVar
Risk	rs28940290(T;T)
Alt	rs28940290(T;T)
Reference	Rs28940290(C;C)
Significance	Pathogenic
Disease	Spinocerebellar ataxia autosomal recessive 1
Variation	info
Gene	SETX
CLNDBN	Spinocerebellar ataxia autosomal recessive 1
Reversed	1
HGVS	NC_000009.11:g.135156870G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002376.4,