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rs786200860

From SNPedia

Orientationplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs786200860(-;-)
Make rs786200860(-;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome20
Position45892797
GeneCTSA, NEURL2
is asnp
is mentioned by
dbSNPrs786200860
ebirs786200860
HLIrs786200860
Exacrs786200860
Varsomers786200860
Maprs786200860
PheGenIrs786200860
hapmaprs786200860
1000 genomesrs786200860
hgdprs786200860
ensemblrs786200860
gopubmedrs786200860
geneviewrs786200860
scholarrs786200860
googlers786200860
pharmgkbrs786200860
gwascentralrs786200860
openSNPrs786200860
23andMers786200860
23andMe allrs786200860
SNP Nexus

SNPshotrs786200860
SNPdbers786200860
MSV3drs786200860
GWAS Ctlgrs786200860
Max Magnitude0
ClinVar
Risk rs786200860(;)
Alt rs786200860(;)
Reference rs786200860(TT;TT)
Significance Pathogenic
Disease Galactosialidosis
Variation info
Gene CTSA NEURL2
CLNDBN Galactosialidosis, late infantile
Reversed 0
HGVS NC_000020.10:g.44521436_44521437delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000418.3,