rs1057517297

Orientation

minus

Stabilized

minus

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

Make rs1057517297(-;-)

Make rs1057517297(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23338497

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517297
dbSNP (classic)	rs1057517297
ClinGen	rs1057517297
ebi	rs1057517297
HLI	rs1057517297
Exac	rs1057517297
Gnomad	rs1057517297
Varsome	rs1057517297
LitVar	rs1057517297
Map	rs1057517297
PheGenI	rs1057517297
Biobank	rs1057517297
1000 genomes	rs1057517297
hgdp	rs1057517297
ensembl	rs1057517297
geneview	rs1057517297
scholar	rs1057517297
google	rs1057517297
pharmgkb	rs1057517297
gwascentral	rs1057517297
openSNP	rs1057517297
23andMe	rs1057517297
SNPshot	rs1057517297
SNPdbe	rs1057517297
MSV3d	rs1057517297
GWAS Ctlg	rs1057517297

Max Magnitude

0

ClinVar
Risk	rs1057517297(-;-)
Alt	rs1057517297(-;-)
Reference	Rs1057517297(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.23912636delA
CLNSRC
CLNACC	RCV000412471.1,