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rs587779402

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779402(-;-)
Make rs587779402(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position45891951
GeneCTSA, NEURL2
is asnp
is mentioned by
dbSNPrs587779402
ebirs587779402
HLIrs587779402
Exacrs587779402
Varsomers587779402
Maprs587779402
PheGenIrs587779402
hapmaprs587779402
1000 genomesrs587779402
hgdprs587779402
ensemblrs587779402
gopubmedrs587779402
geneviewrs587779402
scholarrs587779402
googlers587779402
pharmgkbrs587779402
gwascentralrs587779402
openSNPrs587779402
23andMers587779402
23andMe allrs587779402
SNP Nexus

SNPshotrs587779402
SNPdbers587779402
MSV3drs587779402
GWAS Ctlgrs587779402
Max Magnitude0
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,