Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11880217 | 1.000 | 0.080 | 19 | 12307980 | regulatory region variant | C/T | snv | 0.19 | 1 | ||
rs2431820 | 1.000 | 0.080 | 19 | 10024608 | downstream gene variant | T/C | snv | 8.0E-02 | 1 | ||
rs7259203 | 1.000 | 0.080 | 19 | 8701483 | upstream gene variant | T/C;G | snv | 1 | |||
rs1060499841 | 1.000 | 0.080 | 2 | 21043911 | frameshift variant | A/- | del | 1 | |||
rs1135402762 | 1.000 | 0.080 | 2 | 21043907 | frameshift variant | C/- | del | 1 | |||
rs1135402764 | 1.000 | 0.080 | 2 | 21019101 | frameshift variant | T/- | delins | 1 | |||
rs1135402765 | 1.000 | 0.080 | 2 | 21012278 | frameshift variant | G/- | delins | 1 | |||
rs1135402766 | 1.000 | 0.080 | 2 | 21004677 | splice acceptor variant | T/G | snv | 1 | |||
rs1339117465 | 1.000 | 0.080 | 2 | 21002271 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs1382988295 | 1.000 | 0.080 | 2 | 21006686 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
rs1418775778 | 1.000 | 0.080 | 2 | 21006144 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
rs142017360 | 1.000 | 0.080 | 2 | 21012217 | stop gained | G/A | snv | 7.0E-06 | 1 | ||
rs1442815965 | 1.000 | 0.080 | 2 | 21002308 | stop gained | G/A;T | snv | 7.0E-06 | 1 | ||
rs1553382295 | 1.000 | 0.080 | 2 | 21002202 | missense variant | A/G | snv | 1 | |||
rs1553382300 | 1.000 | 0.080 | 2 | 21002226 | missense variant | T/G | snv | 1 | |||
rs1553382319 | 1.000 | 0.080 | 2 | 21002287 | stop gained | G/A | snv | 1 | |||
rs1553382325 | 1.000 | 0.080 | 2 | 21002292 | frameshift variant | AT/- | del | 1 | |||
rs1553382326 | 1.000 | 0.080 | 2 | 21002296 | stop gained | G/A | snv | 1 | |||
rs1553385715 | 1.000 | 0.080 | 2 | 21025071 | frameshift variant | TT/- | delins | 1 | |||
rs370481987 | 1.000 | 0.080 | 2 | 21006060 | missense variant | T/C | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs61744153 | 1.000 | 0.080 | 2 | 21005391 | missense variant | G/A;T | snv | 1.7E-03 | 1 | ||
rs61744288 | 1.000 | 0.080 | 2 | 21006088 | missense variant | A/C;G;T | snv | 6.4E-04 | 1 | ||
rs747606537 | 1.000 | 0.080 | 2 | 21006100 | stop gained | C/A;T | snv | 4.0E-06 | 1 | ||
rs750158340 | 1.000 | 0.080 | 2 | 21028340 | synonymous variant | A/G | snv | 4.0E-06 | 1 | ||
rs759845943 | 1.000 | 0.080 | 2 | 21015387 | missense variant | C/G;T | snv | 4.0E-06 | 1 |