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: rs1229984
rs1229984
50 0.622 0.393 4 99318162 missense variant T/C,G snp 0.90 0.94 0.820 1.000 3 2010 2015
dbSNP: rs1494961
rs1494961
9 0.821 0.143 4 83453327 missense variant C/T snp 0.56 0.60 0.800 1 2011 2011
dbSNP: rs1789924
rs1789924
9 0.821 0.143 4 99353129 intergenic variant C/G,T snp 0.34 0.800 1 2011 2011
dbSNP: rs4767364
rs4767364
9 0.821 0.143 12 112083644 intron variant G/A snp 0.45 0.800 1 2011 2011
dbSNP: rs971074
rs971074
7 0.878 0.036 4 99420704 synonymous variant C/T snp 0.12 0.14 0.800 1 2011 2011
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.040 0.750 4 2005 2014
dbSNP: rs1051740
rs1051740
29 0.647 0.429 1 225831932 missense variant T/C snp 0.32 0.28 0.030 1.000 3 2003 2016
dbSNP: rs1799782
rs1799782
84 0.523 0.607 19 43553422 stop gained G/A snp 9.5E-02 7.1E-02 0.030 0.333 3 2014 2015
dbSNP: rs25489
rs25489
48 0.587 0.571 19 43552260 stop lost C/G,T snp 8.5E-06; 7.1E-02 3.2E-05; 5.5E-02 0.030 0.667 3 2014 2015
dbSNP: rs1695
rs1695
100 0.510 0.679 11 67585218 missense variant A/G snp 0.34 0.35 0.020 < 0.001 2 2008 2013
dbSNP: rs1799793
rs1799793
51 0.585 0.500 19 45364001 missense variant C/A,T snp 7.1E-06; 0.29 0.27 0.020 1.000 2 2012 2016
dbSNP: rs2234922
rs2234922
28 0.652 0.321 1 225838705 missense variant A/G,T snp 0.19; 2.8E-05 0.23 0.020 1.000 2 2003 2016
dbSNP: rs672601296
rs672601296
4 0.846 0.107 17 7673734 missense variant G/A snp 0.020 1.000 2 2003 2008
dbSNP: rs861539
rs861539
60 0.561 0.464 14 103699416 missense variant G/A snp 0.29 0.29 0.020 1.000 2 2005 2010
dbSNP: rs1045485
rs1045485
26 0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs1048943
rs1048943
53 0.572 0.571 15 74720644 missense variant T/C snp 0.11 5.0E-02 0.010 1.000 1 2008 2008
dbSNP: rs1049253
rs1049253
2 0.923 0.036 4 184627797 3 prime UTR variant A/G snp 0.13 0.010 1.000 1 2013 2013
dbSNP: rs1130409
rs1130409
45 0.590 0.500 14 20456995 missense variant T/A,C,G snp 4.0E-06; 4.0E-06; 0.42 0.44 0.010 1.000 1 2016 2016
dbSNP: rs113193886
rs113193886
38 0.608 0.464 7 143267671 missense variant A/T snp 4.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs16943176
rs16943176
1 1.000 0.036 17 58692526 regulatory region variant G/A,C snp 0.20 0.010 1.000 1 2014 2014
dbSNP: rs17222691
rs17222691
1 1.000 0.036 17 58693735 3 prime UTR variant C/T snp 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1800796
rs1800796
26 0.647 0.571 7 22726627 non coding transcript exon variant G/C snp 0.10 0.010 1.000 1 2014 2014
dbSNP: rs1800896
rs1800896
43 0.593 0.571 1 206773552 intergenic variant T/C snp 0.40 0.010 < 0.001 1 2018 2018
dbSNP: rs187238
rs187238
18 0.692 0.393 11 112164265 intron variant C/A,G snp 0.25 0.010 1.000 1 2018 2018
dbSNP: rs1946518
rs1946518
14 0.707 0.357 11 112164735 intron variant T/G snp 0.59 0.010 1.000 1 2018 2018