Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs3763313 0.807 0.320 6 32408694 upstream gene variant A/C snv 0.21 7
rs4459895
LPP
0.827 0.160 3 188236626 intron variant A/C snv 0.88 5
rs4240807 0.851 0.160 16 85951755 downstream gene variant A/C snv 0.76 4
rs6901221 0.925 0.160 6 33130499 downstream gene variant A/C snv 0.13 2
rs6439924 1.000 0.120 3 140450815 intron variant A/C snv 0.21 1
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1860661 0.882 0.120 19 1650135 intron variant A/C;G snv 6.7E-06; 0.54 3
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs2476601 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs20541 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 52
rs1800797 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 43
rs2308321 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 29
rs3742330 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 24
rs3135932 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 23
rs204999 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 13
rs7652589 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 13
rs12638862 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 10
rs2308327 0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 10
rs12621278 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 7
rs360719 0.790 0.480 11 112165426 non coding transcript exon variant A/G snv 0.25 7