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: rs9982623
rs9982623
2 0.925 0.040 21 46271302 intron variant C/T snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs9984417
rs9984417
2 0.925 0.040 21 22474790 intergenic variant A/T snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.090 0.778 9 2004 2019
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.060 0.667 6 2004 2019
dbSNP: rs1800972
rs1800972
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.030 0.667 3 2015 2019
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.030 1.000 3 2013 2017
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.030 0.667 3 2016 2019
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.030 1.000 3 2013 2017
dbSNP: rs1041981
rs1041981
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.020 1.000 2 2014 2019
dbSNP: rs11362
rs11362
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.020 1.000 2 2017 2019
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2019 2019
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2013 2016
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2013 2016
dbSNP: rs2227532
rs2227532
3 0.882 0.120 4 73739815 upstream gene variant T/C snv 2.9E-02 0.020 0.500 2 2015 2017
dbSNP: rs30461
rs30461
5 0.827 0.120 19 39298475 missense variant A/G snv 0.13 0.25 0.020 < 0.001 2 2015 2019
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.020 0.500 2 2015 2017
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.020 0.500 2 2004 2010
dbSNP: rs1027009063
rs1027009063
2 0.925 0.040 2 8802974 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1035029
rs1035029
C5
2 1.000 0.040 9 120980540 intron variant G/A snv 0.63 0.010 1.000 1 2010 2010
dbSNP: rs1041163
rs1041163
3 0.882 0.160 1 100718269 upstream gene variant T/C snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs10484879
rs10484879
5 0.827 0.160 6 52187159 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1126477
rs1126477
LTF
7 0.807 0.200 3 46459778 missense variant C/T snv 0.34 0.53 0.010 1.000 1 2017 2017
dbSNP: rs1126478
rs1126478
LTF
11 0.763 0.240 3 46459723 missense variant T/C snv 0.41 0.51 0.010 1.000 1 2017 2017