Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs1625579 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 14 | ||
rs1200746244 | 0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 11 | |
rs10494561 | 1.000 | 0.040 | 1 | 183277955 | intron variant | C/T | snv | 9.4E-02 | 3 | ||
rs951436 | 0.925 | 0.040 | 1 | 163063552 | regulatory region variant | A/C | snv | 0.42 | 3 | ||
rs1344706 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 21 | |||
rs701492 | 1.000 | 0.040 | 2 | 170845970 | intron variant | C/T | snv | 0.30 | 0.28 | 2 | |
rs769404 | 1.000 | 0.040 | 2 | 170822115 | synonymous variant | T/C | snv | 0.39 | 0.35 | 2 | |
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs2251219 | 0.732 | 0.120 | 3 | 52550771 | synonymous variant | T/C;G | snv | 0.39; 4.0E-06 | 0.34 | 14 | |
rs2239547 | 0.882 | 0.040 | 3 | 52821213 | intron variant | T/C | snv | 0.27 | 6 | ||
rs7687423 | 0.925 | 0.080 | 4 | 163329645 | intron variant | A/G | snv | 0.53 | 3 | ||
rs187269 | 0.827 | 0.160 | 5 | 161329618 | 3 prime UTR variant | A/G | snv | 0.34 | 6 | ||
rs165940 | 0.925 | 0.040 | 5 | 59383658 | intron variant | A/T | snv | 0.38 | 4 | ||
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs1049353 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 42 | |
rs3800373 | 0.752 | 0.200 | 6 | 35574699 | 3 prime UTR variant | C/A | snv | 0.68 | 22 | ||
rs2023239 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 20 | ||
rs3213207 | 0.776 | 0.120 | 6 | 15627871 | intron variant | T/C | snv | 8.7E-02 | 11 | ||
rs1535255 | 0.807 | 0.120 | 6 | 88151489 | intron variant | T/G | snv | 0.21 | 8 | ||
rs1039002 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 5 | |||
rs2619538 | 0.882 | 0.040 | 6 | 15664978 | upstream gene variant | A/T | snv | 0.54 | 4 |