rs1057516464

Orientation

minus

Stabilized

minus

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

Make rs1057516464(-;-)

Make rs1057516464(-;ATACTCTAAAAGAC)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23334045

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516464
dbSNP (classic)	rs1057516464
ClinGen	rs1057516464
ebi	rs1057516464
HLI	rs1057516464
Exac	rs1057516464
Gnomad	rs1057516464
Varsome	rs1057516464
LitVar	rs1057516464
Map	rs1057516464
PheGenI	rs1057516464
Biobank	rs1057516464
1000 genomes	rs1057516464
hgdp	rs1057516464
ensembl	rs1057516464
geneview	rs1057516464
scholar	rs1057516464
google	rs1057516464
pharmgkb	rs1057516464
gwascentral	rs1057516464
openSNP	rs1057516464
23andMe	rs1057516464
SNPshot	rs1057516464
SNPdbe	rs1057516464
MSV3d	rs1057516464
GWAS Ctlg	rs1057516464

Max Magnitude

0

ClinVar
Risk	rs1057516464(-;-)
Alt	rs1057516464(-;-)
Reference	Rs1057516464(ATACTCTAAAAGAC;ATACTCTAAAAGAC)
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.23908184_23908197delGTCTTTTAGAGTAT
CLNSRC
CLNACC	RCV000410298.1,