rs1057517002

Orientation

minus

Stabilized

minus

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

Make rs1057517002(C;T)

Make rs1057517002(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23333072

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517002
dbSNP (classic)	rs1057517002
ClinGen	rs1057517002
ebi	rs1057517002
HLI	rs1057517002
Exac	rs1057517002
Gnomad	rs1057517002
Varsome	rs1057517002
LitVar	rs1057517002
Map	rs1057517002
PheGenI	rs1057517002
Biobank	rs1057517002
1000 genomes	rs1057517002
hgdp	rs1057517002
ensembl	rs1057517002
geneview	rs1057517002
scholar	rs1057517002
google	rs1057517002
pharmgkb	rs1057517002
gwascentral	rs1057517002
openSNP	rs1057517002
23andMe	rs1057517002
SNPshot	rs1057517002
SNPdbe	rs1057517002
MSV3d	rs1057517002
GWAS Ctlg	rs1057517002

Max Magnitude

0

ClinVar
Risk	rs1057517002(A;A) rs1057517002(T;T)
Alt	rs1057517002(A;A) rs1057517002(T;T)
Reference	Rs1057517002(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.23907211G>A
CLNSRC
CLNACC	RCV000411733.1,