rs1057517285

Orientation

minus

Stabilized

minus

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

Make rs1057517285(C;T)

Make rs1057517285(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23341652

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517285
dbSNP (classic)	rs1057517285
ClinGen	rs1057517285
ebi	rs1057517285
HLI	rs1057517285
Exac	rs1057517285
Gnomad	rs1057517285
Varsome	rs1057517285
LitVar	rs1057517285
Map	rs1057517285
PheGenI	rs1057517285
Biobank	rs1057517285
1000 genomes	rs1057517285
hgdp	rs1057517285
ensembl	rs1057517285
geneview	rs1057517285
scholar	rs1057517285
google	rs1057517285
pharmgkb	rs1057517285
gwascentral	rs1057517285
openSNP	rs1057517285
23andMe	rs1057517285
SNPshot	rs1057517285
SNPdbe	rs1057517285
MSV3d	rs1057517285
GWAS Ctlg	rs1057517285

Max Magnitude

0

ClinVar
Risk	rs1057517285(T;T)
Alt	rs1057517285(T;T)
Reference	Rs1057517285(C;C)
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.23915791G>A
CLNSRC
CLNACC	RCV000412381.1,