rs1057516295

Orientation

minus

Stabilized

minus

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

Make rs1057516295(-;-)

Make rs1057516295(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23337556

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516295
dbSNP (classic)	rs1057516295
ClinGen	rs1057516295
ebi	rs1057516295
HLI	rs1057516295
Exac	rs1057516295
Gnomad	rs1057516295
Varsome	rs1057516295
LitVar	rs1057516295
Map	rs1057516295
PheGenI	rs1057516295
Biobank	rs1057516295
1000 genomes	rs1057516295
hgdp	rs1057516295
ensembl	rs1057516295
geneview	rs1057516295
scholar	rs1057516295
google	rs1057516295
pharmgkb	rs1057516295
gwascentral	rs1057516295
openSNP	rs1057516295
23andMe	rs1057516295
SNPshot	rs1057516295
SNPdbe	rs1057516295
MSV3d	rs1057516295
GWAS Ctlg	rs1057516295

Max Magnitude

0

ClinVar
Risk	rs1057516295(-;-)
Alt	rs1057516295(-;-)
Reference	Rs1057516295(T;T)
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.23911695delA
CLNSRC
CLNACC	RCV000410468.1,