Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28381975 0.827 0.200 3 33798239 intron variant -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA delins 5
rs10629804 1.000 0.080 5 123142307 intron variant -/TTCAC delins 0.72 1
rs587780174 0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 7
rs5780218 0.882 0.080 1 204196482 5 prime UTR variant A/- delins 0.44 4
rs11288072 1.000 0.080 5 159008453 intron variant A/- del 0.25 1
rs146817970 1.000 0.080 5 82217129 intron variant A/- del 0.19 1
rs5837757 1.000 0.080 2 200849597 upstream gene variant A/- del 0.15 1
rs80359306 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 6
rs80359770 0.851 0.200 13 32332429 frameshift variant A/-;AA delins 5
rs886039958 0.882 0.080 17 43093956 frameshift variant A/-;AA delins 3
rs5186 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 38
rs144848 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 29
rs61764370 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs1333048 0.683 0.320 9 22125348 intron variant A/C snv 0.44 24
rs712 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 24
rs4646 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 16
rs4968451 0.732 0.160 17 61849946 intron variant A/C snv 0.15 13
rs1204382931 0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06 10
rs6498486 0.776 0.200 16 13919809 upstream gene variant A/C snv 0.27 8
rs1990172 0.827 0.120 7 20164512 intron variant A/C snv 0.27 6
rs2410373 0.851 0.120 8 16066997 intergenic variant A/C snv 0.34 6
rs6180
GHR
0.827 0.160 5 42719137 missense variant A/C snv 0.44 0.43 6
rs16917302 0.851 0.080 10 62501439 intron variant A/C snv 0.18 5
rs190900046 0.827 0.160 17 43104197 synonymous variant A/C snv 8.0E-06 4.2E-05 5
rs2296135 0.851 0.080 10 5952731 3 prime UTR variant A/C snv 0.58 5