rs1057516580

Orientation

minus

Stabilized

minus

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

Make rs1057516580(-;-)

Make rs1057516580(-;ACTG)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23338979

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516580
dbSNP (classic)	rs1057516580
ClinGen	rs1057516580
ebi	rs1057516580
HLI	rs1057516580
Exac	rs1057516580
Gnomad	rs1057516580
Varsome	rs1057516580
LitVar	rs1057516580
Map	rs1057516580
PheGenI	rs1057516580
Biobank	rs1057516580
1000 genomes	rs1057516580
hgdp	rs1057516580
ensembl	rs1057516580
geneview	rs1057516580
scholar	rs1057516580
google	rs1057516580
pharmgkb	rs1057516580
gwascentral	rs1057516580
openSNP	rs1057516580
23andMe	rs1057516580
SNPshot	rs1057516580
SNPdbe	rs1057516580
MSV3d	rs1057516580
GWAS Ctlg	rs1057516580

Max Magnitude

0

ClinVar
Risk	rs1057516580(-;-)
Alt	rs1057516580(-;-)
Reference	Rs1057516580(ACTG;ACTG)
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.23913118_23913121delCAGT
CLNSRC
CLNACC	RCV000411344.1,