Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs10927887 | 0.925 | 0.040 | 1 | 16024780 | missense variant | A/C;G | snv | 0.55 | 3 | ||
rs111033560 | 0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 | 9 | ||
rs1136201 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 34 | ||
rs121918080 | 0.827 | 0.240 | 18 | 31595128 | missense variant | G/A;T | snv | 2.4E-05 | 6 | ||
rs121918090 | 0.790 | 0.240 | 18 | 31593026 | missense variant | G/C | snv | 8 | |||
rs121918598 | 0.851 | 0.080 | 1 | 237648523 | missense variant | G/A;C | snv | 4 | |||
rs1258130495 | 0.882 | 0.040 | 4 | 147485727 | missense variant | G/A | snv | 3 | |||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs1303946678 | 0.925 | 0.040 | 22 | 42126851 | missense variant | C/G | snv | 3 | |||
rs1320702652 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 11 | ||
rs1337916669 | 0.925 | 0.040 | 6 | 26092879 | missense variant | G/T | snv | 2 | |||
rs1429117513 | 0.925 | 0.040 | 12 | 6775316 | synonymous variant | T/C | snv | 4.0E-06 | 2 | ||
rs1595064 | 0.925 | 0.040 | 2 | 211378020 | 3 prime UTR variant | G/A;C | snv | 2 | |||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1800624 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 33 | |||
rs1800779 | 0.763 | 0.320 | 7 | 150992855 | intron variant | G/A;C | snv | 9 | |||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs200536955 | 0.925 | 0.040 | 19 | 35756980 | missense variant | G/A;T | snv | 7.0E-04 | 3 | ||
rs2549513 | 0.851 | 0.080 | 16 | 79516830 | downstream gene variant | C/A;T | snv | 4 | |||
rs267607499 | 0.851 | 0.160 | 2 | 219418809 | missense variant | A/G;T | snv | 4 | |||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs3212254 | 0.925 | 0.040 | 14 | 24336257 | missense variant | G/A;T | snv | 1.2E-05; 7.3E-02 | 2 | ||
rs371401403 | 0.807 | 0.080 | 11 | 47335996 | missense variant | G/A;T | snv | 6.8E-05; 7.9E-05 | 6 |