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: rs386834034
rs386834034
9 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2016 2016
dbSNP: rs776679653
rs776679653
11 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.700 1.000 1 2017 2017
dbSNP: rs864309676
rs864309676
7 0.851 0.120 6 132472372 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1561273261
rs1561273261
17 0.790 0.160 5 62361307 missense variant G/A snv 0.700 0
dbSNP: rs1567815105
rs1567815105
7 0.807 0.240 16 57660794 frameshift variant -/T delins 0.700 0
dbSNP: rs199422173
rs199422173
7 0.827 0.120 1 197101468 frameshift variant CT/- delins 2.3E-04 1.7E-04 0.700 0
dbSNP: rs797045412
rs797045412
17 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
dbSNP: rs180758272
rs180758272
3 0.882 0.080 15 89649809 missense variant C/T snv 1.1E-04 5.2E-04 0.010 1.000 1 2015 2015