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rs587777532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(TG;TG) 0 common in clinvar
Make rs587777532(-;-)
Make rs587777532(-;A)
ReferenceGRCh38 38.1/142
Chromosome11
Position88294342
GeneCTSC
is asnp
is mentioned by
dbSNPrs587777532
ebirs587777532
HLIrs587777532
Exacrs587777532
Varsomers587777532
Maprs587777532
PheGenIrs587777532
hapmaprs587777532
1000 genomesrs587777532
hgdprs587777532
ensemblrs587777532
gopubmedrs587777532
geneviewrs587777532
scholarrs587777532
googlers587777532
pharmgkbrs587777532
gwascentralrs587777532
openSNPrs587777532
23andMers587777532
23andMe allrs587777532
SNP Nexus

SNPshotrs587777532
SNPdbers587777532
MSV3drs587777532
GWAS Ctlgrs587777532
Max Magnitude0
ClinVar
Risk rs587777532(AG,G;AG,G)
Alt rs587777532(AG,G;AG,G)
Reference rs587777532(TG;TG)
Significance Pathogenic
Disease Papillon-Lefèvre syndrome
Variation info
Gene CTSC
CLNDBN Papillon-Lefèvre syndrome
Reversed 1
HGVS NC_000011.9:g.88027510delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000128618.4,