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: rs113871094
rs113871094
34 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
dbSNP: rs886040971
rs886040971
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs1060499548
rs1060499548
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs143383
rs143383
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs1563686762
rs1563686762
16 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs587777710
rs587777710
8 0.807 0.160 18 22171856 stop gained G/T snv 0.710 1.000 1 2014 2014
dbSNP: rs1057518944
rs1057518944
9 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
dbSNP: rs1565286228
rs1565286228
6 0.807 0.200 11 61766173 frameshift variant GCACCGGGCCCCCCATC/T delins 0.700 0
dbSNP: rs141498002
rs141498002
8 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0
dbSNP: rs143044921
rs143044921
8 0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 0.700 0
dbSNP: rs776720232
rs776720232
10 0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 0.700 0
dbSNP: rs397518483
rs397518483
9 0.851 0.120 3 25596428 missense variant C/A;T snv 0.020 1.000 2 2013 2016
dbSNP: rs61729366
rs61729366
6 0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 0.700 0
dbSNP: rs775394591
rs775394591
5 0.851 0.120 13 38784727 inframe deletion TCT/- delins 2.8E-05 0.700 0
dbSNP: rs121908603
rs121908603
3 0.882 0.120 8 105802189 missense variant A/C;G snv 4.9E-04; 4.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs387906818
rs387906818
3 0.882 0.120 18 22181516 missense variant C/T snv 0.710 1.000 1 2014 2014
dbSNP: rs4842407
rs4842407
4 0.882 0.200 12 78807293 intron variant A/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs1565977796
rs1565977796
7 0.882 0.120 13 26337623 stop gained C/A snv 0.700 0
dbSNP: rs1028344225
rs1028344225
3 0.925 0.120 3 25596566 missense variant C/T snv 0.020 1.000 2 2013 2016
dbSNP: rs121908604
rs121908604
2 0.925 0.080 8 105802609 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs146423225
rs146423225
2 0.925 0.120 8 105802747 stop gained C/G;T snv 1.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs1555628863
rs1555628863
3 0.925 0.080 18 22172215 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs372359356
rs372359356
3 0.925 0.120 4 78337784 missense variant G/A snv 2.8E-05 3.5E-05 0.700 0
dbSNP: rs780263938
rs780263938
3 0.925 0.120 7 41966347 missense variant G/C snv 8.4E-06 0.700 0
dbSNP: rs1276834647
rs1276834647
2 1.000 0.080 15 74183970 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013