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: rs137852834
rs137852834
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1554098663
rs1554098663
1 1.000 0.040 5 123346556 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs199622112
rs199622112
1 1.000 0.040 3 129514432 missense variant G/A;C snv 8.0E-06; 2.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs587777230
rs587777230
4 0.851 0.120 3 196707811 stop gained G/A snv 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs780163791
rs780163791
2 0.925 0.160 6 135323294 stop gained G/A;C snv 4.0E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs863225135
rs863225135
3 0.882 0.240 6 135427244 missense variant T/C snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs770418305
rs770418305
3 1.000 0.040 3 52741486 frameshift variant -/T delins 2.4E-05 1.4E-05 0.700 0