Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs4149056 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 45 | |
rs4148323 | 0.701 | 0.440 | 2 | 233760498 | missense variant | G/A | snv | 2.2E-02 | 9.2E-03 | 22 | |
rs887829 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 18 | ||
rs2306283 | 0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 | 16 | ||
rs8175347 | 0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins | 16 | |||
rs774010631 | 0.827 | 0.160 | 2 | 233719115 | missense variant | G/C | snv | 2.4E-05 | 2.1E-05 | 5 | |
rs1672753 | 0.882 | 0.240 | 3 | 3179746 | upstream gene variant | C/T | snv | 0.71 | 4 | ||
rs11045819 | 0.851 | 0.120 | 12 | 21176879 | missense variant | C/A;T | snv | 0.11; 4.0E-06 | 4 | ||
rs1801019 | 0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 | 4 | ||
rs33947415 | 0.882 | 0.120 | 11 | 5226684 | missense variant | C/G;T | snv | 9.4E-04 | 3 | ||
rs6719561 | 1.000 | 0.040 | 2 | 233775117 | upstream gene variant | C/T | snv | 0.26 | 3 | ||
rs368362776 | 0.882 | 0.120 | 2 | 233693633 | missense variant | C/G;T | snv | 4.0E-06 | 3 | ||
rs6717546 | 1.000 | 0.040 | 2 | 233773473 | upstream gene variant | A/G | snv | 0.59 | 3 | ||
rs758907500 | 0.925 | 0.120 | 4 | 177440274 | missense variant | C/G | snv | 1.6E-05 | 2 | ||
rs113683735 | 0.925 | 0.080 | 22 | 35386751 | missense variant | A/G | snv | 2 | |||
rs776087856 | 1.000 | 0.040 | 10 | 99804134 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
rs1359908894 | 1.000 | 0.040 | 19 | 10154757 | missense variant | G/T | snv | 4.0E-06 | 1 | ||
rs757344228 | 1.000 | 0.040 | 5 | 33982263 | frameshift variant | -/CT | delins | 1.6E-05 | 1.4E-05 | 1 | |
rs373327528 | 1.000 | 0.040 | 12 | 21172776 | missense variant | G/A | snv | 4.4E-05 | 6.3E-05 | 1 | |
rs1046420357 | 1.000 | 0.040 | 12 | 20862840 | missense variant | G/C;T | snv | 1 | |||
rs368817817 | 1.000 | 0.040 | 12 | 20855154 | missense variant | G/A | snv | 4.1E-06 | 1 |