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: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs2709800
rs2709800
4 0.882 0.120 7 30473155 intron variant A/C snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs3748067
rs3748067
21 0.672 0.320 6 52190541 3 prime UTR variant C/T snv 6.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs718226
rs718226
4 0.882 0.120 16 50735652 intron variant A/G snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs7205423
rs7205423
1 1.000 0.040 16 50735351 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1179251
rs1179251
14 0.763 0.320 12 68251271 intron variant C/G snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs12229892
rs12229892
6 0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs1330344
rs1330344
2 0.925 0.120 9 122369409 upstream gene variant C/T snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs2015620
rs2015620
3 0.882 0.120 16 3073560 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2243086
rs2243086
2 1.000 0.040 17 4930914 intron variant G/T snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs2301756
rs2301756
4 0.851 0.120 12 112452972 intron variant A/G snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs10499563
rs10499563
7 0.807 0.120 7 22720869 intron variant T/C snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1640827
rs1640827
3 0.882 0.120 1 223138265 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs17163737
rs17163737
3 0.882 0.120 1 223129809 intron variant G/T snv 7.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs2072493
rs2072493
4 0.851 0.280 1 223111257 missense variant T/A;C snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2017 2017
dbSNP: rs5744168
rs5744168
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2017 2017
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs121917864
rs121917864
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs158572
rs158572
4 0.851 0.120 5 60943616 intron variant G/A snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs2376549
rs2376549
2 0.925 0.120 20 31411284 intron variant C/T snv 0.42 0.010 1.000 1 2018 2018