rs1057516635

Orientation

minus

Stabilized

minus

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

Make rs1057516635(-;-)

Make rs1057516635(-;CAGTT)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23337424

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516635
dbSNP (classic)	rs1057516635
ClinGen	rs1057516635
ebi	rs1057516635
HLI	rs1057516635
Exac	rs1057516635
Gnomad	rs1057516635
Varsome	rs1057516635
LitVar	rs1057516635
Map	rs1057516635
PheGenI	rs1057516635
Biobank	rs1057516635
1000 genomes	rs1057516635
hgdp	rs1057516635
ensembl	rs1057516635
geneview	rs1057516635
scholar	rs1057516635
google	rs1057516635
pharmgkb	rs1057516635
gwascentral	rs1057516635
openSNP	rs1057516635
23andMe	rs1057516635
SNPshot	rs1057516635
SNPdbe	rs1057516635
MSV3d	rs1057516635
GWAS Ctlg	rs1057516635

Max Magnitude

0

ClinVar
Risk	rs1057516635(-;-)
Alt	rs1057516635(-;-)
Reference	Rs1057516635(CAGTT;CAGTT)
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.23911563_23911567delAACTG
CLNSRC
CLNACC	RCV000411320.1,