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: rs1373425060
rs1373425060
AK3
2 0.925 0.120 9 4719290 missense variant G/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs4985726
rs4985726
5 0.925 0.120 17 16960324 intron variant C/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs6449182
rs6449182
6 0.807 0.160 4 15778830 intron variant C/G snv 0.22 0.010 1.000 1 2009 2009
dbSNP: rs1800561
rs1800561
7 0.807 0.240 4 15824935 missense variant C/A;T snv 8.0E-06; 4.4E-04 0.010 1.000 1 2009 2009
dbSNP: rs3803800
rs3803800
7 0.807 0.240 17 7559652 missense variant A/G snv 0.70 0.64 0.010 1.000 1 2015 2015
dbSNP: rs956572
rs956572
11 0.742 0.280 18 63153338 intron variant A/G snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs121913240
rs121913240
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs121913250
rs121913250
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs9514828
rs9514828
12 0.752 0.440 13 108269025 intron variant C/T snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs10434
rs10434
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 1997 1997
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 1997 1997
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs758272654
rs758272654
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2012 2012
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2007 2015