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: 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: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.040 0.750 4 2006 2017
dbSNP: rs12255372
rs12255372
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.030 1.000 3 2006 2011
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.030 1.000 3 2002 2012
dbSNP: rs1801483
rs1801483
7 0.851 0.160 17 81809839 missense variant G/A snv 7.4E-03 6.3E-03 0.030 0.667 3 1995 1996
dbSNP: rs5219
rs5219
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.030 1.000 3 2004 2009
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: rs137852671
rs137852671
10 0.790 0.160 11 17394295 missense variant C/T snv 0.020 1.000 2 2010 2013
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: rs1805097
rs1805097
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.020 0.500 2 2001 2003
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: 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: 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: 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: rs1049673
rs1049673
7 0.807 0.160 7 80677034 3 prime UTR variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10811661
rs10811661
22 0.724 0.400 9 22134095 intergenic variant T/C snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs10830963
rs10830963
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 1.000 1 2009 2009
dbSNP: rs11061946
rs11061946
2 1.000 0.080 12 1719361 intron variant C/T snv 6.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs11061973
rs11061973
2 1.000 0.080 12 1756770 intron variant G/A snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs1111875
rs1111875
10 0.776 0.360 10 92703125 intergenic variant C/T snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1181860747
rs1181860747
10 0.776 0.240 19 7122961 missense variant C/T snv 0.010 < 0.001 1 2001 2001