rs1057516829

Orientation

minus

Stabilized

minus

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

Make rs1057516829(-;TT)

Make rs1057516829(TT;TT)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23341245

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516829
dbSNP (classic)	rs1057516829
ClinGen	rs1057516829
ebi	rs1057516829
HLI	rs1057516829
Exac	rs1057516829
Gnomad	rs1057516829
Varsome	rs1057516829
LitVar	rs1057516829
Map	rs1057516829
PheGenI	rs1057516829
Biobank	rs1057516829
1000 genomes	rs1057516829
hgdp	rs1057516829
ensembl	rs1057516829
geneview	rs1057516829
scholar	rs1057516829
google	rs1057516829
pharmgkb	rs1057516829
gwascentral	rs1057516829
openSNP	rs1057516829
23andMe	rs1057516829
SNPshot	rs1057516829
SNPdbe	rs1057516829
MSV3d	rs1057516829
GWAS Ctlg	rs1057516829

Max Magnitude

0

ClinVar
Risk	rs1057516829(TT;TT)
Alt	rs1057516829(TT;TT)
Reference	Rs1057516829(-;-)
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.23915385_23915386dupAA
CLNSRC
CLNACC	RCV000410288.1,