rs1057517311

Orientation

minus

Stabilized

minus

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

Make rs1057517311(C;T)

Make rs1057517311(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23338751

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517311
dbSNP (classic)	rs1057517311
ClinGen	rs1057517311
ebi	rs1057517311
HLI	rs1057517311
Exac	rs1057517311
Gnomad	rs1057517311
Varsome	rs1057517311
LitVar	rs1057517311
Map	rs1057517311
PheGenI	rs1057517311
Biobank	rs1057517311
1000 genomes	rs1057517311
hgdp	rs1057517311
ensembl	rs1057517311
geneview	rs1057517311
scholar	rs1057517311
google	rs1057517311
pharmgkb	rs1057517311
gwascentral	rs1057517311
openSNP	rs1057517311
23andMe	rs1057517311
SNPshot	rs1057517311
SNPdbe	rs1057517311
MSV3d	rs1057517311
GWAS Ctlg	rs1057517311

Max Magnitude

0

ClinVar
Risk	rs1057517311(T;T)
Alt	rs1057517311(T;T)
Reference	Rs1057517311(C;C)
Significance	Pathogenic
Disease	Spastic ataxia Charlevoix-Saguenay type
Variation	info
Gene	SACS
CLNDBN	Spastic ataxia Charlevoix-Saguenay type
Reversed	1
HGVS	NC_000013.10:g.23912890G>A
CLNSRC
CLNACC	RCV000412006.1,