rs587779402

Orientation

plus

Stabilized

plus

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

Make rs587779402(-;-)

Make rs587779402(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

20

Position

45891951

Gene	CTSA, NEURL2

is a	snp
is	mentioned by
dbSNP	rs587779402
dbSNP (classic)	rs587779402
ClinGen	rs587779402
ebi	rs587779402
HLI	rs587779402
Exac	rs587779402
Gnomad	rs587779402
Varsome	rs587779402
LitVar	rs587779402
Map	rs587779402
PheGenI	rs587779402
Biobank	rs587779402
1000 genomes	rs587779402
hgdp	rs587779402
ensembl	rs587779402
geneview	rs587779402
scholar	rs587779402
google	rs587779402
pharmgkb	rs587779402
gwascentral	rs587779402
openSNP	rs587779402
23andMe	rs587779402
SNPshot	rs587779402
SNPdbe	rs587779402
MSV3d	rs587779402
GWAS Ctlg	rs587779402

Max Magnitude

0

ClinVar
Risk	rs587779402(-;-)
Alt	rs587779402(-;-)
Reference	Rs587779402(C;C)
Significance	Pathogenic
Disease	Combined deficiency of sialidase AND beta galactosidase
Variation	info
Gene	CTSA NEURL2
CLNDBN	Combined deficiency of sialidase AND beta galactosidase
Reversed	0
HGVS	NC_000020.10:g.44520590delC
CLNSRC
CLNACC	RCV000087089.1,