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 | ||
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 | |||
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 | ||
rs45517259 | 0.925 | 0.120 | 16 | 2076142 | missense variant | G/A | snv | 3 | |||
rs137854218 | 0.925 | 0.120 | 16 | 2088293 | inframe insertion | CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA | delins | 3 | |||
rs45507199 | 0.925 | 0.120 | 16 | 2088294 | missense variant | G/A;C;T | snv | 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 | |||
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 | |||
rs397514916 | 0.925 | 0.120 | 16 | 2083754 | missense variant | C/G;T | snv | 2 | |||
rs45438205 | 0.925 | 0.120 | 16 | 2080365 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs45483392 | 0.925 | 0.120 | 16 | 2087897 | missense variant | C/A;T | snv | 2 | |||
rs45487497 | 0.925 | 0.120 | 16 | 2058779 | missense variant | G/A | snv | 2 | |||
rs45514100 | 0.925 | 0.160 | 16 | 2079093 | stop gained | C/G;T | snv | 4.0E-06 | 2 |