Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5030625 0.882 0.160 16 68736944 upstream gene variant A/- del 0.80 3
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs2274223 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs2308321 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 29
rs2308327 0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 10
rs9257809 0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02 10
rs121908389 0.925 0.120 16 50791689 missense variant A/G snv 2
rs786201059 0.701 0.360 17 7673764 stop gained C/A;G;T snv 20
rs6898743
GHR
0.776 0.160 5 42602390 intron variant C/G snv 0.78 9
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs121908390 0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 8
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs6214 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 26
rs12268840 0.827 0.200 10 129527035 intron variant C/T snv 0.22 6
rs9936833 0.882 0.160 16 86369512 intergenic variant C/T snv 0.64 6
rs121908388 0.925 0.120 16 50792627 stop gained C/T snv 4
rs377767360 0.882 0.240 18 51076662 stop gained C/T snv 4.0E-06 4
rs1462159134 1.000 0.120 17 7673764 frameshift variant CC/T delins 1
rs2305764 0.776 0.360 19 17203024 non coding transcript exon variant G/A snv 0.52 0.50 10
rs139429793 0.925 0.120 7 55155928 missense variant G/A snv 1.6E-05 1.4E-05 4
rs536105592 0.925 0.120 8 81529460 missense variant G/A snv 1.2E-04 4.9E-05 2
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs696217 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 32
rs12269324 1.000 0.120 10 129468206 intron variant T/A snv 0.22 1
rs917997 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 20