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: rs199474657
rs199474657
15 0.744 0.321 MT 3243 non coding transcript exon variant snp 0.700 1 2015 2015
dbSNP: rs1801282
rs1801282
77 0.543 0.679 3 12351626 missense variant C/G snp 0.11 1.0E-01 0.030 1.000 3 2000 2007
dbSNP: rs1801483
rs1801483
7 0.846 0.107 17 81809839 missense variant G/A snp 7.4E-03 3.9E-03 0.030 0.667 3 1996 1997
dbSNP: rs1805192
rs1805192
75 0.545 0.679 3 12379739 missense variant C/G snp 0.030 1.000 3 2000 2007
dbSNP: rs5219
rs5219
14 0.734 0.250 11 17388025 missense variant T/A,C snp 0.64 0.71 0.030 1.000 3 2005 2009
dbSNP: rs1137100
rs1137100
20 0.692 0.464 1 65570758 missense variant A/G snp 0.30 0.28 0.020 1.000 2 2001 2006
dbSNP: rs1137101
rs1137101
41 0.605 0.679 1 65592830 missense variant A/G snp 0.51 0.53 0.020 1.000 2 2001 2006
dbSNP: rs1169288
rs1169288
13 0.821 0.143 12 120978847 missense variant A/C,T snp 0.35 0.29; 3.2E-05 0.020 1.000 2 2014 2015
dbSNP: rs12255372
rs12255372
20 0.679 0.357 10 113049143 intron variant G/A,T snp 0.24 0.020 1.000 2 2006 2006
dbSNP: rs137852671
rs137852671
9 0.784 0.143 11 17394295 missense variant C/T snp 0.020 1.000 2 2011 2013
dbSNP: rs1805097
rs1805097
19 0.692 0.286 13 109782884 missense variant C/G,T snp 0.35 0.30 0.020 0.500 2 2001 2003
dbSNP: rs4402960
rs4402960
12 0.756 0.286 3 185793899 intron variant G/T snp 0.38 0.020 1.000 2 2010 2014
dbSNP: rs560887
rs560887
13 0.846 0.107 2 168906638 intron variant T/C snp 0.79 0.79 0.020 1.000 2 2009 2011
dbSNP: rs1042714
rs1042714
38 0.634 0.464 5 148826910 stop gained G/C,T snp 0.68 0.67 0.010 < 0.001 1 2001 2001
dbSNP: rs10830963
rs10830963
17 0.846 0.179 11 92975544 intron variant C/G snp 0.24 0.010 < 0.001 1 2009 2009
dbSNP: rs11061946
rs11061946
2 1.000 0.071 12 1719361 intron variant C/T snp 6.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs11061973
rs11061973
2 1.000 0.071 12 1756770 intron variant G/A snp 0.11 0.010 1.000 1 2012 2012
dbSNP: rs1111875
rs1111875
5 0.878 0.107 10 92703125 intergenic variant C/T snp 0.38 0.010 1.000 1 2014 2014
dbSNP: rs1229984
rs1229984
50 0.622 0.393 4 99318162 missense variant T/C,G snp 0.90 0.94 0.010 1.000 1 2010 2010
dbSNP: rs13266634
rs13266634
13 0.784 0.286 8 117172544 missense variant C/A,T snp 0.29 0.27 0.010 1.000 1 2011 2011
dbSNP: rs13283456
rs13283456
3 0.923 0.071 9 128122474 missense variant C/A,T snp 4.0E-06; 0.13 0.12 0.010 1.000 1 2007 2007
dbSNP: rs137852787
rs137852787
5 0.878 0.071 13 27924519 missense variant G/A snp 1.3E-03 3.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs1693482
rs1693482
9 0.801 0.214 4 99342808 missense variant C/T snp 0.34 0.34 0.010 1.000 1 2010 2010
dbSNP: rs17446593
rs17446593
2 1.000 0.071 13 40553948 intron variant A/G snp 0.18 0.010 1.000 1 2009 2009
dbSNP: rs17446614
rs17446614
2 1.000 0.071 13 40565740 intron variant G/A snp 0.15 0.010 1.000 1 2009 2009