rs864309711, 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.
Infantile myofibromatosis
CUI: C0432284
Disease: Infantile myofibromatosis
10 0.827 0.120 5 150124275 missense variant G/C;T snv 0.720 1.000 3 2016 2019
MYOFIBROMATOSIS, INFANTILE, 1
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
5 0.827 0.120 5 150124275 missense variant G/C;T snv 0.700 0
Myofibromatosis
CUI: C0206648
Disease: Myofibromatosis
7 0.827 0.120 5 150124275 missense variant G/C;T snv 0.020 1.000 2 2016 2019
Myopericytoma
CUI: C1302808
Disease: Myopericytoma
3 0.827 0.120 5 150124275 missense variant G/C;T snv 0.010 1.000 1 2017 2017
Overgrowth Syndrome
CUI: C2986703
Disease: Overgrowth Syndrome
6 0.827 0.120 5 150124275 missense variant G/C;T snv 0.010 1.000 1 2016 2016