Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs61753219 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 64 | |
rs1010184002 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 60 | ||
rs1565679039 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 45 | |||
rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 | |||
rs10490924 | 0.716 | 0.240 | 10 | 122454932 | missense variant | G/T | snv | 0.26 | 0.23 | 16 | |
rs753611141 | 0.827 | 0.280 | 9 | 136418847 | missense variant | G/A;T | snv | 2.4E-05; 4.0E-06 | 14 | ||
rs137852834 | 0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 | 13 | |
rs768643552 | 0.851 | 0.240 | 9 | 136418630 | missense variant | G/A;C | snv | 4.0E-06 | 13 | ||
rs376493409 | 0.742 | 0.280 | 12 | 88083161 | stop gained | G/A;T | snv | 7.0E-05 | 12 | ||
rs104893768 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 11 | |||
rs142285818 | 0.807 | 0.120 | 3 | 129532727 | missense variant | C/G;T | snv | 9.7E-04 | 4.1E-04 | 11 | |
rs80358284 | 0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 | 10 | ||
rs28936700 | 0.776 | 0.120 | 2 | 38075207 | missense variant | C/G;T | snv | 5.0E-06; 3.2E-04 | 9 | ||
rs61750172 | 0.807 | 0.080 | 17 | 8014700 | missense variant | C/A;T | snv | 4.0E-06 | 8 | ||
rs111033272 | 0.851 | 0.200 | 1 | 216325499 | missense variant | G/A;T | snv | 4.0E-06; 2.8E-05 | 7 | ||
rs61750654 | 0.925 | 0.120 | 1 | 94000870 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 | 5 | |
rs886043303 | 0.851 | 0.200 | 12 | 88120121 | frameshift variant | CTCT/- | delins | 7.0E-06 | 5 | ||
rs121918632 | 0.851 | 0.120 | 2 | 165996099 | missense variant | A/G | snv | 7.0E-06 | 5 | ||
rs1553348960 | 0.882 | 0.080 | 2 | 55870851 | missense variant | A/G | snv | 5 | |||
rs151045328 | 0.851 | 0.200 | 11 | 17531431 | synonymous variant | C/T | snv | 3.6E-05 | 2.1E-05 | 5 | |
rs539612316 | 0.925 | 0.120 | 2 | 73449346 | stop gained | T/A | snv | 2.0E-05 | 1.4E-05 | 4 | |
rs1057518822 | 1.000 | 0.080 | 12 | 88102888 | stop gained | G/A | snv | 4 | |||
rs147394623 | 0.882 | 0.080 | 1 | 26438228 | missense variant | A/G | snv | 2.3E-04 | 1.5E-04 | 4 | |
rs763544450 | 1.000 | 0.080 | 21 | 38445560 | missense variant | T/G | snv | 4.0E-06 | 4 |