Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs267607906 | 1.000 | 0.160 | 3 | 37050576 | stop gained | A/C;G;T | snv | 4 | |||
rs876658923 | 1.000 | 0.120 | 3 | 36993593 | frameshift variant | TGAACCG/- | delins | 3 | |||
rs121913482 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 45 | |||
rs121913483 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 31 | ||
rs78311289 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 25 | ||
rs121913485 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 18 | |||
rs28931615 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 13 | |||
rs121913484 | 0.851 | 0.240 | 4 | 1804365 | missense variant | A/T | snv | 5 | |||
rs587779383 | 0.851 | 0.120 | 4 | 1806157 | missense variant | A/C;G;T | snv | 5 | |||
rs121913480 | 1.000 | 0.120 | 4 | 1806604 | missense variant | G/T | snv | 2 | |||
rs767606327 | 4 | 99613118 | missense variant | T/C;G | snv | 1.2E-05; 4.0E-06 | 2 | ||||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 58 | |
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs1801166 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 17 | |
rs61748181 | 0.827 | 0.120 | 5 | 1294051 | missense variant | C/T | snv | 2.2E-02 | 2.2E-02 | 10 | |
rs1400966919 | 0.925 | 0.240 | 5 | 177096737 | missense variant | G/A | snv | 1.4E-05 | 3 | ||
rs369999291 | 5 | 112767315 | missense variant | G/A | snv | 2 | |||||
rs876659156 | 5 | 112839714 | missense variant | G/A | snv | 1 | |||||
rs2077647 | 0.732 | 0.320 | 6 | 151807942 | synonymous variant | T/A;C | snv | 8.1E-06; 0.46 | 16 | ||
rs3798577 | 0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 | 16 | ||
rs796065354 | 0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv | 9 | |||
rs188957694 | 0.882 | 0.080 | 6 | 151944218 | missense variant | G/A;C | snv | 4.0E-05 | 4.9E-05 | 6 | |
rs1418016570 | 6 | 161973326 | missense variant | G/C | snv | 4.0E-06 | 1 |