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rs875989777

From SNPedia

Orientationplus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs875989777(-;-)
Make rs875989777(-;AT)
Make rs875989777(AT;AT)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position45894705
GeneCTSA
is asnp
is mentioned by
dbSNPrs875989777
ebirs875989777
HLIrs875989777
Exacrs875989777
Varsomers875989777
Maprs875989777
PheGenIrs875989777
hapmaprs875989777
1000 genomesrs875989777
hgdprs875989777
ensemblrs875989777
gopubmedrs875989777
geneviewrs875989777
scholarrs875989777
googlers875989777
pharmgkbrs875989777
gwascentralrs875989777
openSNPrs875989777
23andMers875989777
23andMe allrs875989777
SNP Nexus

SNPshotrs875989777
SNPdbers875989777
MSV3drs875989777
GWAS Ctlgrs875989777
Max Magnitude0
ClinVar
Risk rs875989777(;)
Alt rs875989777(;)
Reference rs875989777(TA;TA)
Significance Pathogenic
Disease Combined deficiency of sialidase AND beta galactosidase
Variation info
Gene CTSA
CLNDBN Combined deficiency of sialidase AND beta galactosidase
Reversed 0
HGVS NC_000020.10:g.44523344_44523345delAT
CLNSRC
CLNACC RCV000211118.1,