rs1057516987

Orientation

minus

Stabilized

minus

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

Make rs1057516987(-;A)

Make rs1057516987(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23355474

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516987
dbSNP (classic)	rs1057516987
ClinGen	rs1057516987
ebi	rs1057516987
HLI	rs1057516987
Exac	rs1057516987
Gnomad	rs1057516987
Varsome	rs1057516987
LitVar	rs1057516987
Map	rs1057516987
PheGenI	rs1057516987
Biobank	rs1057516987
1000 genomes	rs1057516987
hgdp	rs1057516987
ensembl	rs1057516987
geneview	rs1057516987
scholar	rs1057516987
google	rs1057516987
pharmgkb	rs1057516987
gwascentral	rs1057516987
openSNP	rs1057516987
23andMe	rs1057516987
SNPshot	rs1057516987
SNPdbe	rs1057516987
MSV3d	rs1057516987
GWAS Ctlg	rs1057516987

Max Magnitude

0

ClinVar
Risk	rs1057516987(A;A)
Alt	rs1057516987(A;A)
Reference	Rs1057516987(-;-)
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.23929614dupT
CLNSRC
CLNACC	RCV000411406.1,