rs1057516767

Orientation

minus

Stabilized

minus

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

Make rs1057516767(-;-)

Make rs1057516767(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23340810

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516767
dbSNP (classic)	rs1057516767
ClinGen	rs1057516767
ebi	rs1057516767
HLI	rs1057516767
Exac	rs1057516767
Gnomad	rs1057516767
Varsome	rs1057516767
LitVar	rs1057516767
Map	rs1057516767
PheGenI	rs1057516767
Biobank	rs1057516767
1000 genomes	rs1057516767
hgdp	rs1057516767
ensembl	rs1057516767
geneview	rs1057516767
scholar	rs1057516767
google	rs1057516767
pharmgkb	rs1057516767
gwascentral	rs1057516767
openSNP	rs1057516767
23andMe	rs1057516767
SNPshot	rs1057516767
SNPdbe	rs1057516767
MSV3d	rs1057516767
GWAS Ctlg	rs1057516767

Max Magnitude

0

ClinVar
Risk	rs1057516767(-;-)
Alt	rs1057516767(-;-)
Reference	Rs1057516767(T;T)
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.23914949delA
CLNSRC
CLNACC	RCV000412355.1,