rs74315304, CTSK

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Pycnodysostosis
CUI: C0238402
Disease: Pycnodysostosis
36 0.925 0.120 1 150799228 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.810 1.000 11 1996 2015
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
26 0.925 0.120 1 150799228 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.925 0.120 1 150799228 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998