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: rs1057519925
rs1057519925
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
dbSNP: rs1057520900
rs1057520900
2 0.925 0.080 10 87957893 stop gained T/C;G snv 0.700 0
dbSNP: rs1085308040
rs1085308040
6 0.851 0.200 10 87961096 missense variant G/A;T snv 0.700 0
dbSNP: rs1085308053
rs1085308053
5 0.882 0.080 10 87952230 missense variant C/T snv 0.700 0
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1553284997
rs1553284997
17 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1555459345
rs1555459345
3 1.000 0.040 16 2119114 missense variant A/G snv 0.700 0
dbSNP: rs1562127631
rs1562127631
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs387906819
rs387906819
6 0.882 0.120 18 22181517 missense variant G/A snv 0.700 0
dbSNP: rs397514698
rs397514698
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs587776667
rs587776667
14 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 0
dbSNP: rs869025195
rs869025195
11 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.020 1.000 2 2011 2013
dbSNP: rs1057519736
rs1057519736
13 0.752 0.160 15 90088605 missense variant C/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1057519853
rs1057519853
6 0.851 0.080 9 77794572 missense variant TG/AA mnv 0.010 1.000 1 2019 2019
dbSNP: rs118101777
rs118101777
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2011 2011
dbSNP: rs121913492
rs121913492
11 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121917766
rs121917766
KDR
2 0.925 0.080 4 55088939 missense variant G/A;C snv 9.2E-05; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs34255532
rs34255532
2 0.925 0.080 5 180618911 missense variant G/A;C snv 3.5E-03; 5.2E-06 0.010 1.000 1 2002 2002
dbSNP: rs752907384
rs752907384
6 0.827 0.200 6 43782077 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2004 2004
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
dbSNP: rs786200952
rs786200952
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015