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: rs2292832
rs2292832
23 0.657 0.429 2 240456086 non coding transcript exon variant T/A,C snp 0.59 0.69 0.020 1.000 2 2013 2014
dbSNP: rs1052133
rs1052133
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1130409
rs1130409
45 0.590 0.500 14 20456995 missense variant T/A,C,G snp 4.0E-06; 4.0E-06; 0.42 0.44 0.010 1.000 1 2016 2016
dbSNP: rs11479
rs11479
2 0.923 0.179 22 50525807 stop gained G/A,C,T snp 0.13; 1.3E-05; 4.3E-06 9.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs11549465
rs11549465
27 0.662 0.357 14 61740839 missense variant C/T snp 8.8E-02 7.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs11549467
rs11549467
14 0.734 0.250 14 61740857 missense variant G/A snp 8.9E-03 1.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs17879961
rs17879961
33 0.615 0.321 22 28725099 missense variant A/C,G snp 4.1E-03 1.1E-02 0.010 1.000 1 2008 2008
dbSNP: rs2010963
rs2010963
34 0.630 0.607 6 43770613 5 prime UTR variant C/G snp 0.70 0.010 1.000 1 2014 2014
dbSNP: rs2043556
rs2043556
5 0.821 0.071 10 51299646 non coding transcript exon variant T/C snp 0.25 0.25 0.010 1.000 1 2013 2013
dbSNP: rs2274223
rs2274223
17 0.699 0.250 10 94306584 missense variant A/G snp 0.28 0.31 0.010 1.000 1 2014 2014
dbSNP: rs2910164
rs2910164
82 0.525 0.750 5 160485411 mature miRNA variant C/G snp 0.71; 4.1E-06 0.71 0.010 1.000 1 2013 2013
dbSNP: rs3746444
rs3746444
40 0.596 0.500 20 34990448 mature miRNA variant A/G snp 0.20 0.18 0.010 1.000 1 2014 2014
dbSNP: rs4986790
rs4986790
146 0.465 0.750 9 117713024 missense variant A/G,T snp 6.1E-02; 4.0E-06 6.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs6214
rs6214
14 0.724 0.286 12 102399791 3 prime UTR variant C/T snp 0.45 0.010 1.000 1 2015 2015
dbSNP: rs63750114
rs63750114
3 0.878 0.143 3 37049015 stop gained C/A,T snp 4.9E-04 4.8E-04 0.010 1.000 1 2008 2008
dbSNP: rs63750447
rs63750447
5 0.846 0.107 3 37025749 missense variant T/A snp 2.7E-03 1.8E-03 0.010 1.000 1 2008 2008
dbSNP: rs6898743
rs6898743
GHR
9 0.769 0.143 5 42602390 intron variant C/G snp 0.78 0.010 1.000 1 2015 2015
dbSNP: rs760043106
rs760043106
24 0.662 0.357 17 7674947 missense variant A/C,G,T snp 0.010 1.000 1 2008 2008