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: rs12970134
rs12970134
13 0.790 0.280 18 60217517 intergenic variant G/A snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs2943641
rs2943641
18 0.763 0.160 2 226229029 intergenic variant T/C snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs9402571
rs9402571
4 0.882 0.080 6 134167822 downstream gene variant T/G snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs137852671
rs137852671
10 0.790 0.160 11 17394295 missense variant C/T snv 0.020 1.000 2 2003 2011
dbSNP: rs146695489
rs146695489
2 0.925 0.160 11 17470170 missense variant T/C snv 2.5E-04 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs2014355
rs2014355
4 0.925 0.120 12 120737721 non coding transcript exon variant T/C snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs9997745
rs9997745
2 0.925 0.040 4 184816689 intron variant G/A snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 < 0.001 1 2010 2010
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2010 2010
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2006 2006
dbSNP: rs148969251
rs148969251
1 1.000 0.040 11 120480110 missense variant A/G snv 3.3E-02 1.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs886041065
rs886041065
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs225014
rs225014
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.010 1.000 1 2010 2010
dbSNP: rs225017
rs225017
2 0.925 0.080 14 80200883 3 prime UTR variant A/T snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 < 0.001 1 2001 2001
dbSNP: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2014 2014
dbSNP: rs10423928
rs10423928
12 0.807 0.200 19 45679046 intron variant T/A snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs121909730
rs121909730
4 0.882 0.040 10 87053380 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs121909731
rs121909731
7 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs4629571
rs4629571
2 0.925 0.160 5 75362479 intron variant A/G snv 8.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs193922479
rs193922479
2 0.925 0.080 20 44424116 missense variant C/A;T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs587777732
rs587777732
9 0.763 0.240 20 44406195 missense variant C/T snv 0.700 0