rs1057517222

Orientation

minus

Stabilized

minus

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

Make rs1057517222(-;T)

Make rs1057517222(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23336761

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517222
dbSNP (classic)	rs1057517222
ClinGen	rs1057517222
ebi	rs1057517222
HLI	rs1057517222
Exac	rs1057517222
Gnomad	rs1057517222
Varsome	rs1057517222
LitVar	rs1057517222
Map	rs1057517222
PheGenI	rs1057517222
Biobank	rs1057517222
1000 genomes	rs1057517222
hgdp	rs1057517222
ensembl	rs1057517222
geneview	rs1057517222
scholar	rs1057517222
google	rs1057517222
pharmgkb	rs1057517222
gwascentral	rs1057517222
openSNP	rs1057517222
23andMe	rs1057517222
SNPshot	rs1057517222
SNPdbe	rs1057517222
MSV3d	rs1057517222
GWAS Ctlg	rs1057517222

Max Magnitude

0

ClinVar
Risk	rs1057517222(T;T)
Alt	rs1057517222(T;T)
Reference	Rs1057517222(-;-)
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.23910901dupA
CLNSRC
CLNACC	RCV000412481.1,