rs1057517250

Orientation

minus

Stabilized

minus

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

Make rs1057517250(G;G)

Make rs1057517250(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23333740

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517250
dbSNP (classic)	rs1057517250
ClinGen	rs1057517250
ebi	rs1057517250
HLI	rs1057517250
Exac	rs1057517250
Gnomad	rs1057517250
Varsome	rs1057517250
LitVar	rs1057517250
Map	rs1057517250
PheGenI	rs1057517250
Biobank	rs1057517250
1000 genomes	rs1057517250
hgdp	rs1057517250
ensembl	rs1057517250
geneview	rs1057517250
scholar	rs1057517250
google	rs1057517250
pharmgkb	rs1057517250
gwascentral	rs1057517250
openSNP	rs1057517250
23andMe	rs1057517250
SNPshot	rs1057517250
SNPdbe	rs1057517250
MSV3d	rs1057517250
GWAS Ctlg	rs1057517250

Max Magnitude

0

ClinVar
Risk	rs1057517250(G;G)
Alt	rs1057517250(G;G)
Reference	Rs1057517250(T;T)
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.23907879A>C
CLNSRC
CLNACC	RCV000412241.1,