rs116205032

Orientation

plus

Stabilized

plus

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

Make rs116205032(C;C)

Make rs116205032(C;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

132329791

Gene

SETX

is a	snp
is	mentioned by
dbSNP	rs116205032
dbSNP (classic)	rs116205032
ClinGen	rs116205032
ebi	rs116205032
HLI	rs116205032
Exac	rs116205032
Gnomad	rs116205032
Varsome	rs116205032
LitVar	rs116205032
Map	rs116205032
PheGenI	rs116205032
Biobank	rs116205032
1000 genomes	rs116205032
hgdp	rs116205032
ensembl	rs116205032
geneview	rs116205032
scholar	rs116205032
google	rs116205032
pharmgkb	rs116205032
gwascentral	rs116205032
openSNP	rs116205032
23andMe	rs116205032
SNPshot	rs116205032
SNPdbe	rs116205032
MSV3d	rs116205032
GWAS Ctlg	rs116205032

GMAF

0.003214

Max Magnitude

0

ClinVar
Risk	rs116205032(C;C)
Alt	rs116205032(C;C)
Reference	Rs116205032(T;T)
Significance	Pathogenic
Disease	Spinocerebellar ataxia autosomal recessive 1
Variation	info
Gene	SETX
CLNDBN	Spinocerebellar ataxia autosomal recessive 1
Reversed	0
HGVS	NC_000009.11:g.135205178T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002383.3,