Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs61752115 | 0.807 | 0.320 | 2 | 61048535 | missense variant | T/C | snv | 4.0E-06 | 7 | ||
rs1174984399 | 1.000 | 0.120 | 3 | 138714505 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs138742347 | 1.000 | 0.120 | 1 | 9722244 | splice region variant | C/T | snv | 5.8E-04 | 2.5E-03 | 1 | |
rs148838884 | 1.000 | 0.120 | 1 | 9722067 | synonymous variant | C/T | snv | 4.4E-05 | 5.6E-05 | 1 | |
rs118203542 | 0.851 | 0.200 | 9 | 132906053 | stop gained | G/A | snv | 4 | |||
rs118203631 | 0.851 | 0.200 | 9 | 132903785 | stop gained | G/A | snv | 4 | |||
rs118203434 | 0.925 | 0.120 | 9 | 132921367 | stop gained | G/A | snv | 3 | |||
rs1301051974 | 0.925 | 0.120 | 9 | 132905820 | synonymous variant | A/G | snv | 4.0E-06 | 3 | ||
rs1064794132 | 1.000 | 0.120 | 9 | 132903649 | splice donor variant | A/T | snv | 2 | |||
rs118203673 | 0.925 | 0.160 | 9 | 132902703 | stop gained | G/A | snv | 2 | |||
rs1554815914 | 1.000 | 0.120 | 9 | 132905874 | frameshift variant | TCCCGCA/GC | delins | 1 | |||
rs185159716 | 1.000 | 0.120 | 9 | 132906751 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs537585211 | 1.000 | 0.120 | 9 | 132897194 | missense variant | C/A | snv | 2.0E-05 | 7.7E-05 | 1 | |
rs865808591 | 1.000 | 0.120 | 9 | 132904435 | missense variant | A/G | snv | 1 | |||
rs28934872 | 0.851 | 0.200 | 16 | 2070571 | missense variant | G/A | snv | 5 | |||
rs45469298 | 0.851 | 0.200 | 16 | 2070570 | missense variant | C/G;T | snv | 5 | |||
rs45517305 | 0.851 | 0.240 | 16 | 2081646 | stop gained | C/A;T | snv | 5 | |||
rs45517259 | 0.925 | 0.120 | 16 | 2076142 | missense variant | G/A | snv | 3 | |||
rs1060500931 | 0.925 | 0.120 | 16 | 2064302 | stop gained | C/T | snv | 2 | |||
rs1114167462 | 1.000 | 0.120 | 16 | 2062533 | stop gained | C/T | snv | 2 | |||
rs1567533189 | 0.925 | 0.160 | 16 | 2086283 | frameshift variant | AAGGACTGCCA/- | del | 2 | |||
rs376285784 | 1.000 | 0.120 | 16 | 2064342 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 2 | |
rs397514914 | 1.000 | 0.120 | 16 | 2071534 | missense variant | C/T | snv | 2 |