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: rs17120035
rs17120035
1 1.000 0.040 11 116793135 upstream gene variant C/T snv 6.4E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs1800730
rs1800730
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs3135507
rs3135507
3 0.925 0.120 11 116790772 missense variant C/T snv 5.0E-02 5.5E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs3834458
rs3834458
7 0.807 0.200 11 61827449 intron variant T/- del 0.28 0.010 < 0.001 1 2019 2019
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 < 0.001 1 2018 2018
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2013 2013
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2014 2016
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.020 0.500 2 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 0.600 5 2007 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.600 5 2013 2016
dbSNP: rs2228603
rs2228603
12 0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02 0.720 0.667 3 2011 2016
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.030 0.667 3 2008 2016
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.090 0.778 9 2010 2014
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.050 0.800 5 2005 2016
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.080 0.875 8 2010 2014
dbSNP: rs58542926
rs58542926
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.100 0.905 42 2014 2020
dbSNP: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.100 0.917 12 2016 2019
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.900 0.953 149 2009 2020
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.790 1.000 10 2011 2019
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.760 1.000 7 2014 2019
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.070 1.000 7 2003 2016
dbSNP: rs2854116
rs2854116
7 0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51 0.060 1.000 6 2010 2018
dbSNP: rs2854117
rs2854117
6 0.851 0.200 11 116829426 upstream gene variant T/A;C snv 0.060 1.000 6 2010 2016
dbSNP: rs1420472625
rs1420472625
2 0.925 0.040 19 54178800 missense variant G/C snv 0.040 1.000 4 2016 2018