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: rs1555454508
rs1555454508
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs11097431
rs11097431
2 0.925 0.040 4 94585691 synonymous variant G/A snv 0.18 0.22 0.010 < 0.001 1 2013 2013
dbSNP: rs1469698992
rs1469698992
8 0.776 0.080 9 131190453 missense variant G/A snv 0.010 < 0.001 1 1993 1993
dbSNP: rs16841582
rs16841582
1 1.000 0.040 1 231837888 intron variant C/G;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs17879353
rs17879353
2 0.925 0.040 17 7668996 3 prime UTR variant G/C;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2015 2015
dbSNP: rs1805069
rs1805069
1 1.000 0.040 4 6301521 missense variant G/A;T snv 9.5E-03; 1.6E-05 0.010 < 0.001 1 2003 2003
dbSNP: rs2230720
rs2230720
1 1.000 0.040 4 6301600 missense variant C/T snv 7.1E-03 2.8E-02 0.010 < 0.001 1 2003 2003
dbSNP: rs55814513
rs55814513
2 1.000 0.040 4 6301470 missense variant G/A;T snv 4.0E-03 0.010 < 0.001 1 2003 2003
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 < 0.001 1 2003 2003
dbSNP: rs7219
rs7219
2 0.925 0.040 17 75319287 3 prime UTR variant C/G;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs7297582
rs7297582
2 0.925 0.040 12 2246640 intron variant C/T snv 0.29 0.010 < 0.001 1 2013 2013
dbSNP: rs734312
rs734312
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.010 < 0.001 1 2003 2003
dbSNP: rs9315897
rs9315897
1 1.000 0.040 13 42164846 intron variant T/C snv 0.13 0.010 < 0.001 1 2011 2011
dbSNP: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.020 0.500 2 2012 2012
dbSNP: rs1801260
rs1801260
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.020 0.500 2 2011 2015
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.020 0.500 2 1993 2012
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2008 2010
dbSNP: rs956572
rs956572
11 0.742 0.280 18 63153338 intron variant A/G snv 0.65 0.030 0.667 3 2011 2016
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.833 36 2004 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.842 38 2004 2019
dbSNP: rs9804190
rs9804190
5 0.882 0.040 10 60080073 intron variant C/T snv 0.30 0.070 0.857 7 2009 2018
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.100 0.867 15 2011 2020
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2006 2014
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.900 0.933 15 2008 2018