rs1057516551

Orientation

minus

Stabilized

minus

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

Make rs1057516551(-;-)

Make rs1057516551(-;TT)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23340680

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516551
dbSNP (classic)	rs1057516551
ClinGen	rs1057516551
ebi	rs1057516551
HLI	rs1057516551
Exac	rs1057516551
Gnomad	rs1057516551
Varsome	rs1057516551
LitVar	rs1057516551
Map	rs1057516551
PheGenI	rs1057516551
Biobank	rs1057516551
1000 genomes	rs1057516551
hgdp	rs1057516551
ensembl	rs1057516551
geneview	rs1057516551
scholar	rs1057516551
google	rs1057516551
pharmgkb	rs1057516551
gwascentral	rs1057516551
openSNP	rs1057516551
23andMe	rs1057516551
SNPshot	rs1057516551
SNPdbe	rs1057516551
MSV3d	rs1057516551
GWAS Ctlg	rs1057516551

Max Magnitude

0

ClinVar
Risk	rs1057516551(-;-)
Alt	rs1057516551(-;-)
Reference	Rs1057516551(TT;TT)
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.23914819_23914820delAA
CLNSRC
CLNACC	RCV000411216.1,