rs1057517060

Orientation

minus

Stabilized

minus

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

Make rs1057517060(-;TT)

Make rs1057517060(TT;TT)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23334786

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517060
dbSNP (classic)	rs1057517060
ClinGen	rs1057517060
ebi	rs1057517060
HLI	rs1057517060
Exac	rs1057517060
Gnomad	rs1057517060
Varsome	rs1057517060
LitVar	rs1057517060
Map	rs1057517060
PheGenI	rs1057517060
Biobank	rs1057517060
1000 genomes	rs1057517060
hgdp	rs1057517060
ensembl	rs1057517060
geneview	rs1057517060
scholar	rs1057517060
google	rs1057517060
pharmgkb	rs1057517060
gwascentral	rs1057517060
openSNP	rs1057517060
23andMe	rs1057517060
SNPshot	rs1057517060
SNPdbe	rs1057517060
MSV3d	rs1057517060
GWAS Ctlg	rs1057517060

Max Magnitude

0

ClinVar
Risk	rs1057517060(TT;TT)
Alt	rs1057517060(TT;TT)
Reference	Rs1057517060(-;-)
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.23908926_23908927dupAA
CLNSRC
CLNACC	RCV000410750.1,