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: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1447295
rs1447295
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 < 0.001 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: 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: rs2274223
rs2274223
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.020 1.000 2 2012 2013
dbSNP: rs1800682
rs1800682
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2014 2014
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: 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: 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: 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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2013 2013
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: rs11896604
rs11896604
8 0.776 0.200 2 54252062 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
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: 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: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.040 1.000 4 2011 2014
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 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: rs17224367
rs17224367
3 0.882 0.160 2 47429833 missense variant C/G;T snv 1.5E-03 0.010 1.000 1 2006 2006
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.020 1.000 2 2014 2018
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2013 2013
dbSNP: rs140693
rs140693
10 0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02 0.010 1.000 1 2009 2009