rs1057517366

Orientation

minus

Stabilized

minus

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

Make rs1057517366(-;-)

Make rs1057517366(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23337655

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517366
dbSNP (classic)	rs1057517366
ClinGen	rs1057517366
ebi	rs1057517366
HLI	rs1057517366
Exac	rs1057517366
Gnomad	rs1057517366
Varsome	rs1057517366
LitVar	rs1057517366
Map	rs1057517366
PheGenI	rs1057517366
Biobank	rs1057517366
1000 genomes	rs1057517366
hgdp	rs1057517366
ensembl	rs1057517366
geneview	rs1057517366
scholar	rs1057517366
google	rs1057517366
pharmgkb	rs1057517366
gwascentral	rs1057517366
openSNP	rs1057517366
23andMe	rs1057517366
SNPshot	rs1057517366
SNPdbe	rs1057517366
MSV3d	rs1057517366
GWAS Ctlg	rs1057517366

Max Magnitude

0

ClinVar
Risk	rs1057517366(-;-)
Alt	rs1057517366(-;-)
Reference	Rs1057517366(A;A)
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.23911794delT
CLNSRC
CLNACC	RCV000411355.1,