rs121434601, PTH1R

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.
Enchondromatosis
CUI: C0014084
Disease: Enchondromatosis
2 0.925 0.080 3 46898097 missense variant C/T snv 1.7E-03 1.7E-03 0.720 1.000 2 2004 2008
Enchondroma
CUI: C1704356
Disease: Enchondroma
13 0.925 0.080 3 46898097 missense variant C/T snv 1.7E-03 1.7E-03 0.010 1.000 1 2008 2008
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.925 0.080 3 46898097 missense variant C/T snv 1.7E-03 1.7E-03 0.010 1.000 1 2008 2008