rs1057516875

Orientation

minus

Stabilized

minus

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

Make rs1057516875(-;T)

Make rs1057516875(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23334498

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516875
dbSNP (classic)	rs1057516875
ClinGen	rs1057516875
ebi	rs1057516875
HLI	rs1057516875
Exac	rs1057516875
Gnomad	rs1057516875
Varsome	rs1057516875
LitVar	rs1057516875
Map	rs1057516875
PheGenI	rs1057516875
Biobank	rs1057516875
1000 genomes	rs1057516875
hgdp	rs1057516875
ensembl	rs1057516875
geneview	rs1057516875
scholar	rs1057516875
google	rs1057516875
pharmgkb	rs1057516875
gwascentral	rs1057516875
openSNP	rs1057516875
23andMe	rs1057516875
SNPshot	rs1057516875
SNPdbe	rs1057516875
MSV3d	rs1057516875
GWAS Ctlg	rs1057516875

Max Magnitude

0

ClinVar
Risk	rs1057516875(T;T)
Alt	rs1057516875(T;T)
Reference	Rs1057516875(-;-)
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.23908638dupA
CLNSRC
CLNACC	RCV000410587.1,