Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs762471803 0.925 0.040 11 102114201 missense variant T/G snv 6
rs11860248 0.882 0.040 16 24566445 intron variant T/G snv 0.27 5
rs7008482 0.882 0.120 8 125255388 intron variant T/G snv 0.48 5
rs7246045 0.882 0.120 19 49042825 upstream gene variant T/G snv 2.9E-02 5
rs11337 0.925 0.120 8 41510767 3 prime UTR variant T/G snv 0.93 4
rs2705897 0.925 0.080 4 184631944 splice region variant T/G snv 0.64 0.73 4
rs10248565 1.000 0.040 7 18935100 intron variant T/G snv 0.14 3
rs7959129 1.000 0.080 12 50775325 intron variant T/G snv 0.84 3
rs915894 1.000 0.080 6 32222613 missense variant T/G snv 0.35 0.36 3
rs112690925 11 535098 intron variant T/G snv 0.25 2
rs4646537 12 57763498 intron variant T/G snv 4.9E-02 2
rs6922 6 85495605 3 prime UTR variant T/G snv 0.74 2
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs1051266 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs121912666 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 34
rs121913364 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 34
rs886039484 0.641 0.440 17 7674888 missense variant T/C;G snv 32
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs3803185 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 19
rs1202989817 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 18
rs12916 0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37 12
rs371246226 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 8