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: 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
dbSNP: rs2297627
rs2297627
3 0.925 0.120 13 40659794 intron variant A/G snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs2721068
rs2721068
4 0.882 0.160 13 40565575 intron variant T/C snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs28936379
rs28936379
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 1999 1999
dbSNP: rs2920502
rs2920502
6 0.851 0.160 3 12287696 intron variant G/C snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs33954001
rs33954001
2 1.000 0.120 22 32110063 missense variant C/G;T snv 4.8E-02; 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs3731201
rs3731201
2 1.000 0.080 9 21988897 intron variant C/T snv 0.86 0.010 1.000 1 2010 2010
dbSNP: rs3813929
rs3813929
5 0.851 0.240 X 114584047 upstream gene variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs3816873
rs3816873
9 0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26 0.010 1.000 1 2006 2006
dbSNP: rs3818361
rs3818361
CR1
6 0.851 0.080 1 207611623 intron variant A/G snv 0.74 0.010 1.000 1 2017 2017
dbSNP: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2018 2018
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2009 2009
dbSNP: rs495490
rs495490
2 1.000 0.080 9 22010413 intron variant A/G snv 6.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs587783672
rs587783672
5 0.882 0.080 11 17387413 missense variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007