Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913516 | 1.000 | 0.080 | 4 | 54729353 | missense variant | C/T | snv | 4.0E-06 | 6 | ||
rs768824654 | 1.000 | 0.120 | 2 | 47403390 | start lost | A/G | snv | 7.0E-06 | 6 | ||
rs10203853 | 1.000 | 0.080 | 2 | 233778772 | intron variant | A/G;T | snv | 5 | |||
rs1057519696 | 1.000 | 0.040 | 2 | 29214054 | missense variant | C/T | snv | 5 | |||
rs10929251 | 1.000 | 0.080 | 2 | 233637583 | intron variant | A/G | snv | 0.13 | 5 | ||
rs17864678 | 1.000 | 0.080 | 2 | 233635964 | intron variant | T/A | snv | 5.6E-03 | 5 | ||
rs35690297 | 1.000 | 0.120 | 7 | 6002584 | start lost | T/A;C | snv | 5 | |||
rs587781716 | 1.000 | 0.160 | 7 | 6003718 | frameshift variant | C/-;CC | delins | 5 | |||
rs6728940 | 1.000 | 0.080 | 2 | 233780518 | intron variant | G/A | snv | 0.26 | 5 | ||
rs773647920 | 1.000 | 0.120 | 3 | 37001037 | start lost | A/G | snv | 2.4E-04 | 3.5E-05 | 5 | |
rs786202567 | 1.000 | 0.120 | 7 | 5992027 | missense variant | T/A;C | snv | 4.0E-06 | 1.4E-05 | 5 | |
rs1044471 | 1.000 | 0.080 | 12 | 1787790 | 3 prime UTR variant | C/T | snv | 0.38 | 4 | ||
rs1063538 | 1.000 | 0.080 | 3 | 186856394 | 3 prime UTR variant | T/C | snv | 0.55 | 4 | ||
rs121912679 | 1.000 | 0.040 | 2 | 157761077 | missense variant | C/T | snv | 4 | |||
rs13058338 | 1.000 | 0.040 | 22 | 37236730 | intron variant | T/A;G | snv | 4 | |||
rs1564483 | 1.000 | 0.080 | 18 | 63127421 | 3 prime UTR variant | C/T | snv | 0.22 | 4 | ||
rs1940475 | 1.000 | 0.040 | 11 | 102722517 | missense variant | T/C;G | snv | 0.54 | 4 | ||
rs2302427 | 1.000 | 0.080 | 7 | 148828812 | missense variant | C/G | snv | 7.8E-02 | 6.0E-02 | 4 | |
rs3136558 | 1.000 | 2 | 112833698 | intron variant | A/G | snv | 0.21 | 4 | |||
rs3757733 | 1.000 | 0.040 | 7 | 116553675 | intron variant | T/A | snv | 0.26 | 4 | ||
rs4642 | 1.000 | 0.080 | 17 | 47292411 | synonymous variant | A/G | snv | 0.29 | 0.29 | 4 | |
rs587776551 | 1.000 | 0.200 | 11 | 108281168 | missense variant | G/A;T | snv | 1.6E-05 | 1.4E-05 | 4 | |
rs587779872 | 1.000 | 0.200 | 11 | 108345818 | missense variant | C/T | snv | 3.2E-05 | 1.4E-05 | 4 | |
rs587780784 | 1.000 | 0.080 | 16 | 68811854 | stop gained | C/G;T | snv | 1.6E-05; 8.0E-06 | 4 | ||
rs730881687 | 1.000 | 0.080 | 22 | 28710060 | splice acceptor variant | C/A;T | snv | 1.2E-05; 1.6E-05 | 4 |