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rs587776654

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776654(C;T)
Make rs587776654(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position88294509
GeneCTSC
is asnp
is mentioned by
dbSNPrs587776654
ebirs587776654
HLIrs587776654
Exacrs587776654
Varsomers587776654
Maprs587776654
PheGenIrs587776654
hapmaprs587776654
1000 genomesrs587776654
hgdprs587776654
ensemblrs587776654
gopubmedrs587776654
geneviewrs587776654
scholarrs587776654
googlers587776654
pharmgkbrs587776654
gwascentralrs587776654
openSNPrs587776654
23andMers587776654
23andMe allrs587776654
SNP Nexus

SNPshotrs587776654
SNPdbers587776654
MSV3drs587776654
GWAS Ctlgrs587776654
Max Magnitude0
ClinVar
Risk rs587776654(C,T;C,T)
Alt rs587776654(C,T;C,T)
Reference rs587776654(G;G)
Significance Pathogenic
Disease Papillon-Lefèvre syndrome
Variation info
Gene CTSC
CLNDBN Papillon-Lefèvre syndrome
Reversed 1
HGVS NC_000011.9:g.88027677C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007713.5,