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rs104894211

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894211(A;G)
Make rs104894211(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position88294358
GeneCTSC
is asnp
is mentioned by
dbSNPrs104894211
dbSNP (classic)rs104894211
ClinGenrs104894211
ebirs104894211
HLIrs104894211
Exacrs104894211
Gnomadrs104894211
Varsomers104894211
LitVarrs104894211
Maprs104894211
PheGenIrs104894211
Biobankrs104894211
1000 genomesrs104894211
hgdprs104894211
ensemblrs104894211
geneviewrs104894211
scholarrs104894211
googlers104894211
pharmgkbrs104894211
gwascentralrs104894211
openSNPrs104894211
23andMers104894211
SNPshotrs104894211
SNPdbers104894211
MSV3drs104894211
GWAS Ctlgrs104894211
Max Magnitude0
OMIM602365
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894211(G;G)
Alt rs104894211(G;G)
Reference Rs104894211(A;A)
Significance Pathogenic
Disease Periodontitis Papillon-Lefèvre syndrome
Variation info
Gene CTSC
CLNDBN Periodontitis, aggressive, 1 Papillon-Lefèvre syndrome
Reversed 1
HGVS NC_000011.9:g.88027526T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007724.4, RCV000128617.3,