rs1057516930

Orientation

minus

Stabilized

minus

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

Make rs1057516930(A;A)

Make rs1057516930(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

23339578

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs1057516930
dbSNP (classic)	rs1057516930
ClinGen	rs1057516930
ebi	rs1057516930
HLI	rs1057516930
Exac	rs1057516930
Gnomad	rs1057516930
Varsome	rs1057516930
LitVar	rs1057516930
Map	rs1057516930
PheGenI	rs1057516930
Biobank	rs1057516930
1000 genomes	rs1057516930
hgdp	rs1057516930
ensembl	rs1057516930
geneview	rs1057516930
scholar	rs1057516930
google	rs1057516930
pharmgkb	rs1057516930
gwascentral	rs1057516930
openSNP	rs1057516930
23andMe	rs1057516930
SNPshot	rs1057516930
SNPdbe	rs1057516930
MSV3d	rs1057516930
GWAS Ctlg	rs1057516930

Max Magnitude

0

ClinVar
Risk	rs1057516930(A;A)
Alt	rs1057516930(A;A)
Reference	Rs1057516930(G;G)
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.23913717C>T
CLNSRC
CLNACC	RCV000410424.1,