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: rs121908030
rs121908030
6 0.851 0.080 19 11107484 missense variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs121908040
rs121908040
4 0.851 0.080 19 11106652 missense variant G/A;T snv 1.2E-05 0.700 0
dbSNP: rs137929307
rs137929307
12 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.700 0
dbSNP: rs139617694
rs139617694
6 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs144172724
rs144172724
6 0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05 0.700 0
dbSNP: rs146200173
rs146200173
3 0.882 0.080 19 11113292 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs368657165
rs368657165
7 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.700 0
dbSNP: rs370777955
rs370777955
3 0.882 0.080 19 11113643 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs374045590
rs374045590
7 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs377271627
rs377271627
2 0.925 0.080 19 11102769 stop gained C/G snv 4.0E-06 0.700 0
dbSNP: rs5742904
rs5742904
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.100 0.917 12 1991 2018
dbSNP: rs137852912
rs137852912
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.100 1.000 11 2004 2020
dbSNP: rs879254925
rs879254925
8 0.790 0.120 19 11113680 missense variant G/T snv 0.100 1.000 10 2004 2020
dbSNP: rs12713559
rs12713559
10 0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04 0.040 1.000 4 1997 2000
dbSNP: rs28942111
rs28942111
7 0.807 0.120 1 55044016 missense variant T/A snv 0.030 1.000 3 2007 2009
dbSNP: rs3736228
rs3736228
13 0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 0.030 1.000 3 2006 2009
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.030 1.000 3 2010 2017
dbSNP: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 0.500 2 2015 2018
dbSNP: rs11887534
rs11887534
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2004 2008
dbSNP: rs144467873
rs144467873
9 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.020 1.000 2 1997 1999
dbSNP: rs1468271
rs1468271
2 1.000 0.040 7 24287362 intron variant C/T snv 0.97 0.020 1.000 2 2008 2009
dbSNP: rs2241220
rs2241220
2 1.000 0.040 12 109237224 synonymous variant T/A;C;G snv 4.0E-06; 0.83 0.020 1.000 2 2008 2009
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.020 0.500 2 1993 2001
dbSNP: rs1004467
rs1004467
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1047731829
rs1047731829
1 1.000 0.040 19 11120186 missense variant T/C snv 0.010 1.000 1 2004 2004