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: rs10489265
rs10489265
5 0.827 0.200 1 173266926 regulatory region variant A/C snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs1051169
rs1051169
5 0.851 0.200 21 46602317 synonymous variant C/A;G;T snv 0.65 0.010 1.000 1 2020 2020
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2001 2001
dbSNP: rs12720270
rs12720270
4 0.851 0.240 19 10365084 intron variant G/A snv 0.21 0.16 0.010 1.000 1 2019 2019
dbSNP: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs17266594
rs17266594
7 0.807 0.280 4 101829765 intron variant T/C snv 0.25 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2009 2009
dbSNP: rs2069705
rs2069705
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs2069718
rs2069718
14 0.742 0.320 12 68156382 intron variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs2243188
rs2243188
4 0.851 0.200 1 206841127 intron variant A/C;T snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs2304256
rs2304256
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.010 1.000 1 2019 2019
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2397084
rs2397084
14 0.716 0.480 6 52237046 missense variant T/C snv 6.7E-02 6.1E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs2430561
rs2430561
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs280500
rs280500
3 0.882 0.200 19 10379726 5 prime UTR variant A/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs28362930
rs28362930
3 0.925 0.160 15 74408859 downstream gene variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2011 2011
dbSNP: rs3077
rs3077
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs3181032
rs3181032
2 0.925 0.160 12 68162395 intron variant A/C snv 5.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs34536443
rs34536443
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2011 2011
dbSNP: rs3805455
rs3805455
2 0.925 0.160 5 170813490 3 prime UTR variant T/C snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs3824662
rs3824662
11 0.752 0.320 10 8062245 intron variant C/A;T snv 0.010 < 0.001 1 2018 2018