CTSC, cathepsin C, 1075

N. diseases: 139; N. variants: 23
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894211
rs104894211
0.882 0.120 11 88294358 missense variant T/C snv 1.2E-05
CUI: C4551681
Disease: Periodontitis, Aggressive, 1
Periodontitis, Aggressive, 1
Stomatognathic Diseases 0.800 1.000 2 2000 2004
dbSNP: rs28937571
rs28937571
1.000 0.040 11 88294163 missense variant T/C snv
CUI: C4551681
Disease: Periodontitis, Aggressive, 1
Periodontitis, Aggressive, 1
Stomatognathic Diseases 0.800 1.000 2 2000 2004
dbSNP: rs587777534
rs587777534
0.882 0.160 11 88296207 missense variant C/G;T snv 1.6E-05; 4.0E-06
CUI: C4551681
Disease: Periodontitis, Aggressive, 1
Periodontitis, Aggressive, 1
Stomatognathic Diseases 0.700 0