rs1057517020

Orientation

minus

Stabilized

minus

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

Make rs1057517020(-;-)

Make rs1057517020(-;CA)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23335142

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517020
dbSNP (classic)	rs1057517020
ClinGen	rs1057517020
ebi	rs1057517020
HLI	rs1057517020
Exac	rs1057517020
Gnomad	rs1057517020
Varsome	rs1057517020
LitVar	rs1057517020
Map	rs1057517020
PheGenI	rs1057517020
Biobank	rs1057517020
1000 genomes	rs1057517020
hgdp	rs1057517020
ensembl	rs1057517020
geneview	rs1057517020
scholar	rs1057517020
google	rs1057517020
pharmgkb	rs1057517020
gwascentral	rs1057517020
openSNP	rs1057517020
23andMe	rs1057517020
SNPshot	rs1057517020
SNPdbe	rs1057517020
MSV3d	rs1057517020
GWAS Ctlg	rs1057517020

Max Magnitude

0

ClinVar
Risk	rs1057517020(-;-)
Alt	rs1057517020(-;-)
Reference	Rs1057517020(CA;CA)
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.23909281_23909282delTG
CLNSRC
CLNACC	RCV000409838.1,