Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1236009270 | 1.000 | 0.040 | 16 | 10977321 | synonymous variant | C/T | snv | 2 | |||
rs2671222 | 1.000 | 0.040 | 2 | 218167879 | upstream gene variant | T/C | snv | 0.89 | 2 | ||
rs4606565 | 1.000 | 0.040 | 12 | 124954003 | splice region variant | A/G | snv | 0.65 | 0.57 | 2 | |
rs2431332 | 1.000 | 0.040 | 5 | 79025286 | intron variant | A/G | snv | 0.18 | 2 | ||
rs527330902 | 1.000 | 0.040 | 13 | 95760205 | missense variant | C/A | snv | 1.2E-05 | 2 | ||
rs118081497 | 1.000 | 0.040 | 12 | 92782070 | missense variant | A/T | snv | 1.1E-02 | 3.3E-03 | 2 | |
rs2335491 | 1.000 | 0.040 | 4 | 1017278 | intron variant | T/A;G | snv | 9.5E-06 | 2 | ||
rs17137004 | 1.000 | 0.040 | 7 | 114389196 | intron variant | A/G | snv | 0.38 | 2 | ||
rs150179526 | 1.000 | 0.040 | 2 | 162144091 | missense variant | T/C;G | snv | 2.7E-03 | 2 | ||
rs769370836 | 1.000 | 0.040 | 22 | 39968202 | missense variant | A/G | snv | 6.8E-05 | 7.0E-06 | 2 | |
rs1013773109 | 1.000 | 0.040 | 2 | 164497436 | missense variant | T/C | snv | 2.1E-05 | 2 | ||
rs370963321 | 1.000 | 0.040 | 2 | 239134419 | missense variant | C/T | snv | 6.0E-04 | 4.2E-05 | 2 | |
rs6774584 | 1.000 | 0.040 | 3 | 57211294 | intron variant | A/G | snv | 0.46 | 2 | ||
rs1744 | 1.000 | 0.040 | 6 | 32747257 | downstream gene variant | A/T | snv | 1.2E-02 | 2 | ||
rs17238540 | 1.000 | 0.040 | 5 | 75359673 | non coding transcript exon variant | T/G | snv | 4.0E-02 | 2 | ||
rs1169305 | 1.000 | 0.040 | 12 | 120999579 | missense variant | A/G | snv | 1.00 | 0.99 | 2 | |
rs142318174 | 1.000 | 0.040 | 12 | 120978923 | missense variant | G/C | snv | 2.0E-04 | 8.1E-04 | 2 | |
rs587778393 | 1.000 | 0.040 | 12 | 120978923 | missense variant | GC/CT | mnv | 2 | |||
rs1388926124 | 1.000 | 0.040 | 12 | 120978862 | missense variant | G/A | snv | 2 | |||
rs1282596664 | 1.000 | 0.040 | 17 | 37731616 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
rs1240512008 | 1.000 | 0.040 | 20 | 44413780 | missense variant | G/A | snv | 2 | |||
rs753476712 | 1.000 | 0.040 | 20 | 44418452 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs754907741 | 1.000 | 0.040 | 20 | 44414567 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 2 | |
rs779271027 | 1.000 | 0.040 | 20 | 44413723 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs149131600 | 1.000 | 0.040 | 19 | 35058218 | intron variant | C/A;T | snv | 0.10 | 2 |