Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060499542
rs1060499542
PDGFRB
5 0.827 0.120 5 150125556 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs144050370
rs144050370
PDGFRB
4 0.851 0.080 5 150124295 missense variant G/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs367543286
rs367543286
PDGFRB
5 0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs863224946
rs863224946
PDGFRB
2 0.925 0.040 5 150125501 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs864309711
rs864309711
PDGFRB
5 0.827 0.120 5 150124275 missense variant G/C;T snv 0.010 1.000 1 2016 2016