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: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.020 1.000 2 2001 2005
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2001 2005
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: 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: 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: 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: rs945508
rs945508
3 1.000 0.080 1 156937289 missense variant T/C snv 0.64 0.66 0.010 1.000 1 2008 2008
dbSNP: rs560887
rs560887
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.020 1.000 2 2009 2010
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: rs744373
rs744373
8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.040 1.000 4 2000 2012
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 1.000 4 2000 2012
dbSNP: rs4402960
rs4402960
21 0.724 0.400 3 185793899 intron variant G/T snv 0.38 0.020 1.000 2 2010 2014
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: rs2920502
rs2920502
6 0.851 0.160 3 12287696 intron variant G/C snv 0.27 0.010 1.000 1 2018 2018
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: rs72551362
rs72551362
4 0.925 0.080 3 12416836 missense variant G/A snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs8192678
rs8192678
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.020 1.000 2 2004 2005
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: 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: 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: 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: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2001 2001
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2002 2006
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