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 | 0.763 | 0.400 | 12 | 6044368 | missense variant | T/C;G | snv | 0.31 | 14 | ||
rs4362 | 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 |