rs1057517014

Orientation

minus

Stabilized

minus

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

Make rs1057517014(C;T)

Make rs1057517014(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23336015

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517014
dbSNP (classic)	rs1057517014
ClinGen	rs1057517014
ebi	rs1057517014
HLI	rs1057517014
Exac	rs1057517014
Gnomad	rs1057517014
Varsome	rs1057517014
LitVar	rs1057517014
Map	rs1057517014
PheGenI	rs1057517014
Biobank	rs1057517014
1000 genomes	rs1057517014
hgdp	rs1057517014
ensembl	rs1057517014
geneview	rs1057517014
scholar	rs1057517014
google	rs1057517014
pharmgkb	rs1057517014
gwascentral	rs1057517014
openSNP	rs1057517014
23andMe	rs1057517014
SNPshot	rs1057517014
SNPdbe	rs1057517014
MSV3d	rs1057517014
GWAS Ctlg	rs1057517014

Max Magnitude

0

ClinVar
Risk	rs1057517014(T;T)
Alt	rs1057517014(T;T)
Reference	Rs1057517014(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.23910154G>A
CLNSRC
CLNACC	RCV000408978.1,