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rs587777533

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777533(A;C)
Make rs587777533(C;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position88337577
GeneCTSC, LOC101929174
is asnp
is mentioned by
dbSNPrs587777533
dbSNP (classic)rs587777533
ClinGenrs587777533
ebirs587777533
HLIrs587777533
Exacrs587777533
Gnomadrs587777533
Varsomers587777533
LitVarrs587777533
Maprs587777533
PheGenIrs587777533
Biobankrs587777533
1000 genomesrs587777533
hgdprs587777533
ensemblrs587777533
geneviewrs587777533
scholarrs587777533
googlers587777533
pharmgkbrs587777533
gwascentralrs587777533
openSNPrs587777533
23andMers587777533
SNPshotrs587777533
SNPdbers587777533
MSV3drs587777533
GWAS Ctlgrs587777533
Max Magnitude0
ClinVar
Risk rs587777533(C;C)
Alt rs587777533(C;C)
Reference Rs587777533(A;A)
Significance Pathogenic
Disease Papillon-Lefèvre syndrome
Variation info
Gene CTSC
CLNDBN Papillon-Lefèvre syndrome
Reversed 0
HGVS NC_000011.9:g.88070745A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000128619.4,