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: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2017 2017
dbSNP: rs2043556
rs2043556
17 0.716 0.440 10 51299646 non coding transcript exon variant T/C snv 0.25 0.24 0.010 1.000 1 2012 2012
dbSNP: rs2070874
rs2070874
IL4
27 0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 0.010 1.000 1 2017 2017
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2016 2016
dbSNP: rs2839698
rs2839698
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.010 1.000 1 2017 2017
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 2013 2013
dbSNP: rs386656364
rs386656364
8 0.807 0.160 2 233682328 missense variant CG/AA mnv 0.010 1.000 1 2002 2002
dbSNP: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs4135385
rs4135385
14 0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs41526344
rs41526344
2 0.925 0.120 3 2943458 intron variant G/A snv 7.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2013 2013
dbSNP: rs4751240
rs4751240
3 0.882 0.120 10 127338145 intron variant G/A snv 9.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs587778964
rs587778964
4 0.882 0.160 3 37048604 missense variant A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs63750006
rs63750006
3 0.882 0.160 2 47429920 stop gained C/A;G;T snv 5.5E-04; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs63750070
rs63750070
3 0.882 0.160 2 47410245 missense variant T/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs63750114
rs63750114
5 0.827 0.160 3 37049015 stop gained C/A;T snv 4.9E-04 0.010 1.000 1 2007 2007
dbSNP: rs63750228
rs63750228
1 1.000 0.080 2 47429926 missense variant C/A;G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs63751067
rs63751067
1 1.000 0.080 2 47410244 frameshift variant CTAGGACTGTGT/A delins 0.010 1.000 1 2006 2006
dbSNP: rs6505162
rs6505162
25 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 0.010 1.000 1 2019 2019
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 2015 2015
dbSNP: rs6713088
rs6713088
9 0.763 0.200 2 54118332 intron variant C/G snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs6898743
rs6898743
GHR
9 0.776 0.160 5 42602390 intron variant C/G snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs6983267
rs6983267
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 < 0.001 1 2017 2017