rs1057517172

Orientation

minus

Stabilized

minus

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

Make rs1057517172(A;A)

Make rs1057517172(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23338407

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057517172
dbSNP (classic)	rs1057517172
ClinGen	rs1057517172
ebi	rs1057517172
HLI	rs1057517172
Exac	rs1057517172
Gnomad	rs1057517172
Varsome	rs1057517172
LitVar	rs1057517172
Map	rs1057517172
PheGenI	rs1057517172
Biobank	rs1057517172
1000 genomes	rs1057517172
hgdp	rs1057517172
ensembl	rs1057517172
geneview	rs1057517172
scholar	rs1057517172
google	rs1057517172
pharmgkb	rs1057517172
gwascentral	rs1057517172
openSNP	rs1057517172
23andMe	rs1057517172
SNPshot	rs1057517172
SNPdbe	rs1057517172
MSV3d	rs1057517172
GWAS Ctlg	rs1057517172

Max Magnitude

0

ClinVar
Risk	rs1057517172(A;A)
Alt	rs1057517172(A;A)
Reference	Rs1057517172(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.23912546G>T
CLNSRC
CLNACC	RCV000409004.1,