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.
Thrombocytopenia-Absent Radius Syndrome
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
5 1.000 0.120 1 145927447 5 prime UTR variant C/A;T snv 4.2E-06; 1.8E-02 0.710 1.000 4 2012 2017
Uric acid measurement (procedure)
CUI: C0202239
Disease: Uric acid measurement (procedure)
1463 1.000 0.120 1 145927447 5 prime UTR variant C/A;T snv 4.2E-06; 1.8E-02 0.700 1.000 1 2019 2019