rs367543286, PDGFRB

N. diseases: 5
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.
MYOFIBROMATOSIS, INFANTILE, 1
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
5 0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06 0.800 1.000 4 2013 2017
Infantile myofibromatosis
CUI: C0432284
Disease: Infantile myofibromatosis
10 0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06 0.730 1.000 4 2013 2018
Myofibromatosis
CUI: C0206648
Disease: Myofibromatosis
7 0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06 0.030 1.000 3 2013 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
Overgrowth Syndrome
CUI: C2986703
Disease: Overgrowth Syndrome
6 0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016