Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs138106763 | 1.000 | 0.040 | 7 | 100857102 | missense variant | A/G | snv | 7.2E-05 | 1.2E-04 | 2 | |
rs2228612 | 0.763 | 0.160 | 19 | 10162696 | missense variant | T/A;C;G | snv | 0.14 | 12 | ||
rs755660650 | 0.827 | 0.120 | 5 | 102498596 | missense variant | G/C | snv | 4.0E-06 | 5 | ||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs11225395 | 0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv | 11 | |||
rs17655 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 52 | |
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs2995264 | 0.851 | 0.080 | 10 | 103909085 | intron variant | G/A | snv | 0.88 | 4 | ||
rs1057519804 | 1.000 | 0.040 | 14 | 104776711 | missense variant | G/T | snv | 2 | |||
rs397514644 | 0.925 | 0.040 | 14 | 104780190 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs1351212535 | 1.000 | 0.040 | 9 | 104831015 | missense variant | T/A | snv | 4.0E-06 | 1 | ||
rs4698934 | 1.000 | 0.040 | 4 | 105218230 | intron variant | T/C | snv | 0.12 | 1 | ||
rs17119461 | 1.000 | 0.040 | 10 | 105756594 | intergenic variant | T/C | snv | 7.7E-02 | 1 | ||
rs17119490 | 1.000 | 0.040 | 10 | 105763169 | intergenic variant | G/A | snv | 6.3E-02 | 1 | ||
rs6707820 | 1.000 | 0.040 | 2 | 105809256 | intron variant | C/T | snv | 0.25 | 1 | ||
rs10739221 | 0.851 | 0.080 | 9 | 106298549 | intron variant | T/C;G | snv | 5 | |||
rs10816595 | 0.851 | 0.080 | 9 | 107947454 | regulatory region variant | A/G | snv | 0.33 | 4 | ||
rs1800054 | 0.827 | 0.080 | 11 | 108227849 | missense variant | C/G;T | snv | 7.1E-03 | 7 | ||
rs587779826 | 0.851 | 0.360 | 11 | 108267344 | splice donor variant | T/C | snv | 4.0E-06 | 5 | ||
rs1801516 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 39 | |
rs4444903 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 35 | ||
rs11568953 | 1.000 | 0.040 | 4 | 109963240 | synonymous variant | A/G | snv | 9.7E-03 | 1.0E-02 | 1 | |
rs868443937 | 1.000 | 0.040 | 13 | 110715751 | missense variant | G/C;T | snv | 1 | |||
rs374980122 | 1.000 | 0.040 | 2 | 111142384 | missense variant | A/C | snv | 1.3E-05 | 3.5E-05 | 1 |