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rs587776655

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776655(-;-)
Make rs587776655(-;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position88294351
GeneCTSC
is asnp
is mentioned by
dbSNPrs587776655
dbSNP (classic)rs587776655
ClinGenrs587776655
ebirs587776655
HLIrs587776655
Exacrs587776655
Gnomadrs587776655
Varsomers587776655
LitVarrs587776655
Maprs587776655
PheGenIrs587776655
Biobankrs587776655
1000 genomesrs587776655
hgdprs587776655
ensemblrs587776655
geneviewrs587776655
scholarrs587776655
googlers587776655
pharmgkbrs587776655
gwascentralrs587776655
openSNPrs587776655
23andMers587776655
SNPshotrs587776655
SNPdbers587776655
MSV3drs587776655
GWAS Ctlgrs587776655
Max Magnitude0
ClinVar
Risk rs587776655(-;-)
Alt rs587776655(-;-)
Reference Rs587776655(T;T)
Significance Pathogenic
Disease Papillon-Lefèvre syndrome
Variation info
Gene CTSC
CLNDBN Papillon-Lefèvre syndrome
Reversed 0
HGVS NC_000011.9:g.88027519delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000007716.4,