rs786200859

Orientation

plus

Stabilized

plus

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

Make rs786200859(A;G)

Make rs786200859(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

20

Position

45893314

Gene

CTSA

is a	snp
is	mentioned by
dbSNP	rs786200859
dbSNP (classic)	rs786200859
ClinGen	rs786200859
ebi	rs786200859
HLI	rs786200859
Exac	rs786200859
Gnomad	rs786200859
Varsome	rs786200859
LitVar	rs786200859
Map	rs786200859
PheGenI	rs786200859
Biobank	rs786200859
1000 genomes	rs786200859
hgdp	rs786200859
ensembl	rs786200859
geneview	rs786200859
scholar	rs786200859
google	rs786200859
pharmgkb	rs786200859
gwascentral	rs786200859
openSNP	rs786200859
23andMe	rs786200859
SNPshot	rs786200859
SNPdbe	rs786200859
MSV3d	rs786200859
GWAS Ctlg	rs786200859

Max Magnitude

0

ClinVar
Risk	rs786200859(G;G)
Alt	rs786200859(G;G)
Reference	Rs786200859(A;A)
Significance	Pathogenic
Disease	Galactosialidosis Combined deficiency of sialidase AND beta galactosidase
Variation	info
Gene	CTSA
CLNDBN	Galactosialidosis, adult Combined deficiency of sialidase AND beta galactosidase
Reversed	0
HGVS	NC_000020.10:g.44521953A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000407.3, RCV000308111.1,