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: rs1181860747
rs1181860747
10 0.776 0.240 19 7122961 missense variant C/T snv 0.010 < 0.001 1 2001 2001
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121909244
rs121909244
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2010 2010
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs13283456
rs13283456
3 0.925 0.080 9 128122474 missense variant C/A;T snv 4.0E-06; 0.13 0.010 1.000 1 2007 2007
dbSNP: rs137852787
rs137852787
5 0.882 0.080 13 27924519 missense variant G/A snv 1.3E-03 2.0E-04 0.010 1.000 1 2004 2004
dbSNP: rs1486559930
rs1486559930
1 11 49175866 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1527483
rs1527483
2 1.000 0.080 7 80672184 intron variant G/A snv 6.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2005 2005
dbSNP: rs1693482
rs1693482
12 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 0.010 1.000 1 2010 2010
dbSNP: rs17446593
rs17446593
2 1.000 0.080 13 40553948 intron variant A/G snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs17446614
rs17446614
5 0.851 0.240 13 40565740 intron variant G/A snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 1999 1999
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2006 2006
dbSNP: rs1799999
rs1799999
4 0.882 0.160 7 113878379 missense variant C/A snv 0.22 0.17 0.010 < 0.001 1 2000 2000
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2002 2002
dbSNP: rs1801278
rs1801278
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.010 1.000 1 1998 1998
dbSNP: rs1805094
rs1805094
16 0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1884614
rs1884614
5 0.882 0.080 20 44351879 non coding transcript exon variant C/T snv 0.18 0.010 1.000 1 2004 2004
dbSNP: rs2073162
rs2073162
2 1.000 0.080 X 100594020 synonymous variant G/A snv 0.40 0.39 0.010 1.000 1 2007 2007
dbSNP: rs2233580
rs2233580
5 0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs2278426
rs2278426
11 1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11 0.010 1.000 1 2019 2019
dbSNP: rs2293855
rs2293855
5 0.851 0.120 8 11319901 non coding transcript exon variant G/A snv 0.35 0.010 1.000 1 2014 2014