rs141315518

Orientation

plus

Stabilized

plus

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

Make rs141315518(G;T)

Make rs141315518(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

23331644

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs141315518
dbSNP (classic)	rs141315518
ClinGen	rs141315518
ebi	rs141315518
HLI	rs141315518
Exac	rs141315518
Gnomad	rs141315518
Varsome	rs141315518
LitVar	rs141315518
Map	rs141315518
PheGenI	rs141315518
Biobank	rs141315518
1000 genomes	rs141315518
hgdp	rs141315518
ensembl	rs141315518
geneview	rs141315518
scholar	rs141315518
google	rs141315518
pharmgkb	rs141315518
gwascentral	rs141315518
openSNP	rs141315518
23andMe	rs141315518
SNPshot	rs141315518
SNPdbe	rs141315518
MSV3d	rs141315518
GWAS Ctlg	rs141315518

Max Magnitude

0

ClinVar
Risk	rs141315518(A;A) rs141315518(C;C) rs141315518(T;T)
Alt	rs141315518(A;A) rs141315518(C;C) rs141315518(T;T)
Reference	Rs141315518(G;G)
Significance	Probable-Pathogenic
Disease	Spastic ataxia Charlevoix-Saguenay type
Variation	info
Gene	SACS
CLNDBN	Spastic ataxia Charlevoix-Saguenay type
Reversed	0
HGVS	NC_000013.10:g.23905783G>A
CLNSRC	Counsyl
CLNACC	RCV000169220.1,