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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2005 2005
dbSNP: rs1057519369
rs1057519369
NF1
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
dbSNP: rs866419664
rs866419664
5 0.882 0.040 17 7673821 frameshift variant -/TCCCA delins 0.010 1.000 1 2002 2002
dbSNP: rs71305152
rs71305152
5 0.882 0.040 8 105437494 intron variant -/TTTTCT delins 0.43 0.010 1.000 1 2015 2015
dbSNP: rs6010620
rs6010620
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.080 1.000 8 2010 2019
dbSNP: rs121918465
rs121918465
7 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12594
rs12594
2 0.925 0.040 1 237833787 3 prime UTR variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2010 2010
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2016 2016
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2009 2009
dbSNP: rs6089953
rs6089953
3 0.882 0.080 20 63659655 intron variant A/G snv 0.82 0.010 1.000 1 2015 2015
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.720 1.000 3 2013 2016
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.800 0.923 13 2009 2018
dbSNP: rs55819519
rs55819519
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2016 2016
dbSNP: rs2305948
rs2305948
KDR
18 0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11 0.010 1.000 1 2016 2016
dbSNP: rs1057519897
rs1057519897
6 0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs2378456
rs2378456
LPP
6 0.807 0.200 3 188885218 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs281865545
rs281865545
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs371409680
rs371409680
10 0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs751857027
rs751857027
2 0.925 0.120 19 10707507 missense variant C/G;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs118101777
rs118101777
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.030 0.667 3 2015 2018
dbSNP: rs16835904
rs16835904
2 0.925 0.040 1 237833954 3 prime UTR variant C/T snv 0.17 0.010 1.000 1 2019 2019