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: rs367543077
rs367543077
3 0.882 0.120 1 235450286 stop gained G/A snv 0.020 1.000 2 2015 2017
dbSNP: rs1249080185
rs1249080185
3 0.882 0.080 1 22784698 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1057518879
rs1057518879
19 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
dbSNP: rs587777893
rs587777893
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
dbSNP: rs730882225
rs730882225
3 0.925 0.040 1 235980495 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs869025667
rs869025667
VHL
6 0.827 0.200 3 10149916 missense variant T/C snv 0.010 1.000 1 2000 2000
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs730882245
rs730882245
6 0.827 0.160 4 122207168 stop gained T/A snv 0.700 0
dbSNP: rs1060499542
rs1060499542
5 0.827 0.120 5 150125556 missense variant A/G snv 0.700 0
dbSNP: rs267607116
rs267607116
8 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs1554555063
rs1554555063
7 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
dbSNP: rs1563406024
rs1563406024
4 0.851 0.240 8 28555799 frameshift variant -/A delins 0.700 0
dbSNP: rs587783446
rs587783446
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs797045412
rs797045412
17 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
dbSNP: rs562015640
rs562015640
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs1085308046
rs1085308046
9 0.790 0.240 10 87933160 missense variant T/C;G snv 0.700 0
dbSNP: rs121918494
rs121918494
25 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
dbSNP: rs776587763
rs776587763
7 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
dbSNP: rs121918464
rs121918464
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs387906597
rs387906597
4 0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06 0.010 1.000 1 2011 2011
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
dbSNP: rs869312714
rs869312714
3 0.925 0.120 16 3729810 missense variant C/A snv 0.700 0
dbSNP: rs768366978
rs768366978
NF1
5 0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs779027563
rs779027563
58 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017