Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1060503115 | 0.763 | 0.400 | 7 | 5978664 | missense variant | T/A;G | snv | 13 | |||
rs112445441 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 32 | |||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 63 | |||
rs121918464 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 25 | |||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 29 | |||
rs217727 | 0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 | 34 | ||
rs2227983 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 31 | ||
rs28934575 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 37 | |||
rs373129709 | 0.827 | 0.120 | 7 | 55019338 | missense variant | G/A;T | snv | 1.1E-04 | 7 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs397517132 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 48 | |||
rs4072037 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 22 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs752021744 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 29 | ||
rs759412116 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 55 | ||
rs833061 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 42 | |||
rs876658657 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 25 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs746702110 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 38 |