rs1057517437

Orientation

minus

Stabilized

minus

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

Make rs1057517437(A;A)

Make rs1057517437(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23341546

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517437
dbSNP (classic)	rs1057517437
ClinGen	rs1057517437
ebi	rs1057517437
HLI	rs1057517437
Exac	rs1057517437
Gnomad	rs1057517437
Varsome	rs1057517437
LitVar	rs1057517437
Map	rs1057517437
PheGenI	rs1057517437
Biobank	rs1057517437
1000 genomes	rs1057517437
hgdp	rs1057517437
ensembl	rs1057517437
geneview	rs1057517437
scholar	rs1057517437
google	rs1057517437
pharmgkb	rs1057517437
gwascentral	rs1057517437
openSNP	rs1057517437
23andMe	rs1057517437
SNPshot	rs1057517437
SNPdbe	rs1057517437
MSV3d	rs1057517437
GWAS Ctlg	rs1057517437

Max Magnitude

0

ClinVar
Risk	rs1057517437(A;A)
Alt	rs1057517437(A;A)
Reference	Rs1057517437(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.23915685G>T
CLNSRC
CLNACC	RCV000409346.1,