rs1057517305

Orientation

minus

Stabilized

minus

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

Make rs1057517305(-;GT)

Make rs1057517305(GT;GT)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23338801

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517305
dbSNP (classic)	rs1057517305
ClinGen	rs1057517305
ebi	rs1057517305
HLI	rs1057517305
Exac	rs1057517305
Gnomad	rs1057517305
Varsome	rs1057517305
LitVar	rs1057517305
Map	rs1057517305
PheGenI	rs1057517305
Biobank	rs1057517305
1000 genomes	rs1057517305
hgdp	rs1057517305
ensembl	rs1057517305
geneview	rs1057517305
scholar	rs1057517305
google	rs1057517305
pharmgkb	rs1057517305
gwascentral	rs1057517305
openSNP	rs1057517305
23andMe	rs1057517305
SNPshot	rs1057517305
SNPdbe	rs1057517305
MSV3d	rs1057517305
GWAS Ctlg	rs1057517305

Max Magnitude

0

ClinVar
Risk	rs1057517305(GT;GT)
Alt	rs1057517305(GT;GT)
Reference	Rs1057517305(-;-)
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.23912941_23912942dupAC
CLNSRC
CLNACC	RCV000409240.1,