Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs121434596 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 26 | ||
rs121913615 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 25 | ||
rs8192284 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 19 | |||
rs1057520009 | 0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 | 14 | ||
rs767464424 | 0.925 | 0.080 | 2 | 37222420 | frameshift variant | T/- | delins | 4.2E-06 | 3 | ||
rs777017502 | 0.925 | 0.080 | 2 | 37222420 | missense variant | T/C;G | snv | 4.2E-06; 4.2E-06 | 3 | ||
rs770692189 | 1.000 | 0.120 | 2 | 111123957 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 2 | ||
rs387907272 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 73 | |
rs757333753 | 0.851 | 0.200 | 3 | 12618681 | missense variant | C/A;T | snv | 4.0E-06 | 6 | ||
rs1800023 | 1.000 | 0.040 | 3 | 46370817 | intron variant | A/G | snv | 0.29 | 2 | ||
rs78245253 | 1.000 | 3 | 128485850 | missense variant | G/A;C | snv | 4.0E-06; 5.0E-03 | 2 | |||
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 52 | |||
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs121913506 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 24 | |||
rs5743551 | 0.742 | 0.240 | 4 | 38806033 | intron variant | T/A;C | snv | 12 | |||
rs121913512 | 0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv | 9 | |||
rs3921 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 8 | ||
rs7656411 | 0.790 | 0.320 | 4 | 153706503 | downstream gene variant | T/G | snv | 0.35 | 8 | ||
rs1057519802 | 5 | 150061765 | missense variant | A/C | snv | 2 | |||||
rs121913390 | 5 | 150073481 | stop gained | A/G;T | snv | 2 | |||||
rs121913393 | 5 | 150054083 | missense variant | A/G | snv | 2 | |||||
rs1801271 | 5 | 150054082 | missense variant | T/A;C | snv | 2 | |||||
rs1057520014 | 5 | 150073480 | missense variant | C/A | snv | 1 |