rs1057517212

Orientation

minus

Stabilized

minus

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

Make rs1057517212(-;T)

Make rs1057517212(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23335263

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517212
dbSNP (classic)	rs1057517212
ClinGen	rs1057517212
ebi	rs1057517212
HLI	rs1057517212
Exac	rs1057517212
Gnomad	rs1057517212
Varsome	rs1057517212
LitVar	rs1057517212
Map	rs1057517212
PheGenI	rs1057517212
Biobank	rs1057517212
1000 genomes	rs1057517212
hgdp	rs1057517212
ensembl	rs1057517212
geneview	rs1057517212
scholar	rs1057517212
google	rs1057517212
pharmgkb	rs1057517212
gwascentral	rs1057517212
openSNP	rs1057517212
23andMe	rs1057517212
SNPshot	rs1057517212
SNPdbe	rs1057517212
MSV3d	rs1057517212
GWAS Ctlg	rs1057517212

Max Magnitude

0

ClinVar
Risk	rs1057517212(T;T)
Alt	rs1057517212(T;T)
Reference	Rs1057517212(-;-)
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.23909403dupA
CLNSRC
CLNACC	RCV000411570.1,