rs1057517123

Orientation

minus

Stabilized

minus

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

Make rs1057517123(-;A)

Make rs1057517123(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23330592

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517123
dbSNP (classic)	rs1057517123
ClinGen	rs1057517123
ebi	rs1057517123
HLI	rs1057517123
Exac	rs1057517123
Gnomad	rs1057517123
Varsome	rs1057517123
LitVar	rs1057517123
Map	rs1057517123
PheGenI	rs1057517123
Biobank	rs1057517123
1000 genomes	rs1057517123
hgdp	rs1057517123
ensembl	rs1057517123
geneview	rs1057517123
scholar	rs1057517123
google	rs1057517123
pharmgkb	rs1057517123
gwascentral	rs1057517123
openSNP	rs1057517123
23andMe	rs1057517123
SNPshot	rs1057517123
SNPdbe	rs1057517123
MSV3d	rs1057517123
GWAS Ctlg	rs1057517123

Max Magnitude

0

ClinVar
Risk	rs1057517123(A;A)
Alt	rs1057517123(A;A)
Reference	Rs1057517123(-;-)
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.23904732dupT
CLNSRC
CLNACC	RCV000409320.1,