Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs71785313 0.882 0.120 22 36265996 inframe deletion TTATAA/- delins 5
rs60307791 1.000 0.040 11 65767714 intron variant TT/-;T;TTT;TTTT delins 3
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs7574865 0.574 0.720 2 191099907 intron variant T/G snv 0.79 59
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs12229654 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 20
rs52820871 0.827 0.160 18 60371599 missense variant T/G snv 6.9E-03 7.6E-03 6
rs753152 0.882 0.160 17 42761487 intron variant T/G snv 0.12 6
rs6564851 0.882 0.120 16 81230992 intergenic variant T/G snv 0.48 5
rs9402571 0.882 0.080 6 134167822 downstream gene variant T/G snv 0.22 4
rs200879349 0.925 0.240 1 169468804 missense variant T/G snv 5.2E-05 6.3E-05 3
rs17238540 1.000 0.040 5 75359673 non coding transcript exon variant T/G snv 4.0E-02 2
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs1260326 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 81
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs4149117 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 15
rs1063856
VWF
0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 14
rs4362
ACE
0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51 9
rs150179526 1.000 0.040 2 162144091 missense variant T/C;G snv 2.7E-03 2
rs4394754 1.000 0.040 10 132529558 intergenic variant T/C;G snv 2
rs56381858 1.000 0.040 7 80671994 stop gained T/C;G snv 4.0E-06; 2.4E-04 2
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157