rs1057516932

Orientation

minus

Stabilized

minus

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

Make rs1057516932(-;A)

Make rs1057516932(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23337118

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516932
dbSNP (classic)	rs1057516932
ClinGen	rs1057516932
ebi	rs1057516932
HLI	rs1057516932
Exac	rs1057516932
Gnomad	rs1057516932
Varsome	rs1057516932
LitVar	rs1057516932
Map	rs1057516932
PheGenI	rs1057516932
Biobank	rs1057516932
1000 genomes	rs1057516932
hgdp	rs1057516932
ensembl	rs1057516932
geneview	rs1057516932
scholar	rs1057516932
google	rs1057516932
pharmgkb	rs1057516932
gwascentral	rs1057516932
openSNP	rs1057516932
23andMe	rs1057516932
SNPshot	rs1057516932
SNPdbe	rs1057516932
MSV3d	rs1057516932
GWAS Ctlg	rs1057516932

Max Magnitude

0

ClinVar
Risk	rs1057516932(A;A)
Alt	rs1057516932(A;A)
Reference	Rs1057516932(-;-)
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.23911258dupT
CLNSRC
CLNACC	RCV000409610.1,