rs1057517034

Orientation

minus

Stabilized

minus

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

Make rs1057517034(-;TG)

Make rs1057517034(TG;TG)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23340961

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517034
dbSNP (classic)	rs1057517034
ClinGen	rs1057517034
ebi	rs1057517034
HLI	rs1057517034
Exac	rs1057517034
Gnomad	rs1057517034
Varsome	rs1057517034
LitVar	rs1057517034
Map	rs1057517034
PheGenI	rs1057517034
Biobank	rs1057517034
1000 genomes	rs1057517034
hgdp	rs1057517034
ensembl	rs1057517034
geneview	rs1057517034
scholar	rs1057517034
google	rs1057517034
pharmgkb	rs1057517034
gwascentral	rs1057517034
openSNP	rs1057517034
23andMe	rs1057517034
SNPshot	rs1057517034
SNPdbe	rs1057517034
MSV3d	rs1057517034
GWAS Ctlg	rs1057517034

Max Magnitude

0

ClinVar
Risk	rs1057517034(TG;TG)
Alt	rs1057517034(TG;TG)
Reference	Rs1057517034(-;-)
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.23915101_23915102dupCA
CLNSRC
CLNACC	RCV000409133.1,