rs1057516959

Orientation

minus

Stabilized

minus

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

Make rs1057516959(-;-)

Make rs1057516959(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23336088

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516959
dbSNP (classic)	rs1057516959
ClinGen	rs1057516959
ebi	rs1057516959
HLI	rs1057516959
Exac	rs1057516959
Gnomad	rs1057516959
Varsome	rs1057516959
LitVar	rs1057516959
Map	rs1057516959
PheGenI	rs1057516959
Biobank	rs1057516959
1000 genomes	rs1057516959
hgdp	rs1057516959
ensembl	rs1057516959
geneview	rs1057516959
scholar	rs1057516959
google	rs1057516959
pharmgkb	rs1057516959
gwascentral	rs1057516959
openSNP	rs1057516959
23andMe	rs1057516959
SNPshot	rs1057516959
SNPdbe	rs1057516959
MSV3d	rs1057516959
GWAS Ctlg	rs1057516959

Max Magnitude

0

ClinVar
Risk	rs1057516959(-;-)
Alt	rs1057516959(-;-)
Reference	Rs1057516959(T;T)
Significance	Probable-Pathogenic
Disease	Spastic ataxia Charlevoix-Saguenay type
Variation	info
Gene	SACS
CLNDBN	Spastic ataxia Charlevoix-Saguenay type
Reversed	1
HGVS	NC_000013.10:g.23910227delA
CLNSRC
CLNACC	RCV000409944.1,