Source: ALL
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: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1870377
rs1870377
KDR
25 0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2008 2008
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 1.000 28 2005 2019
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.030 0.667 3 2002 2018
dbSNP: rs57875989
rs57875989
7 0.882 0.080 1 7829913 splice acceptor variant GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC delins 0.11 0.18 0.010 1.000 1 2018 2018
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs228697
rs228697
5 0.882 0.080 1 7827519 missense variant C/G snv 8.7E-02 7.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs10507274
rs10507274
2 1.000 0.040 12 116723171 missense variant T/C snv 4.7E-02 4.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs11669576
rs11669576
6 0.851 0.160 19 11111624 missense variant G/A snv 4.3E-02 8.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2008 2012
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs61731122
rs61731122
1 1.000 0.040 1 64632626 synonymous variant G/A;T snv 1.8E-02; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs80338903
rs80338903
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
dbSNP: rs755246809
rs755246809
7 0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 0.700 0
dbSNP: rs144078282
rs144078282
9 0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04 0.700 0
dbSNP: rs200203460
rs200203460
9 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
dbSNP: rs61910731
rs61910731
2 1.000 0.040 22 19963574 missense variant G/A;C;T snv 2.4E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs63750424
rs63750424
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs769540300
rs769540300
8 0.851 0.200 6 154091047 missense variant G/A snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 26 2005 2019
dbSNP: rs774847933
rs774847933
5 0.882 0.200 22 19962797 missense variant A/G snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.020 1.000 2 2008 2009
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005