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.
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.882 0.160 21 36073015 3 prime UTR variant G/A snv 9.7E-02 0.010 1.000 1 2014 2014
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.882 0.160 21 36073015 3 prime UTR variant G/A snv 9.7E-02 0.010 1.000 1 2014 2014
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.882 0.160 21 36073015 3 prime UTR variant G/A snv 9.7E-02 0.010 1.000 1 2017 2017