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
rs10680577 0.776 0.160 19 40798690 intron variant -/TACT delins 10
rs712 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 24
rs213210 0.742 0.240 6 33208047 upstream gene variant A/C;G snv 11
rs1859168 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 13
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs10505477 0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs10811474 0.742 0.240 9 21114238 intergenic variant A/G snv 0.44 11
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1408543226
XPA
0.807 0.240 9 97675558 missense variant A/G snv 7.0E-06 6
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs17576 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs1800469 0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs1800625 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 39
rs1800871 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135