Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs761675397 | 1.000 | 0.040 | 4 | 88114965 | missense variant | T/C | snv | 2.8E-05 | 2.8E-05 | 1 | |
rs16827671 | 1.000 | 0.040 | 1 | 150766283 | upstream gene variant | T/C | snv | 0.35 | 1 | ||
rs1047731829 | 1.000 | 0.040 | 19 | 11120186 | missense variant | T/C | snv | 1 | |||
rs1279368649 | 1.000 | 0.040 | 19 | 11120146 | missense variant | C/T | snv | 2.1E-05 | 1 | ||
rs1308646934 | 1.000 | 0.040 | 19 | 11129527 | missense variant | C/T | snv | 1 | |||
rs770937716 | 1.000 | 0.040 | 19 | 11107405 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
rs879255203 | 1.000 | 0.040 | 19 | 11129534 | missense variant | T/C | snv | 2.4E-05 | 2.1E-05 | 1 | |
rs879254894 | 1.000 | 0.040 | 19 | 11113593 | missense variant | A/G | snv | 1 | |||
rs4823613 | 1.000 | 0.040 | 22 | 46202410 | intron variant | A/G | snv | 0.30 | 1 | ||
rs2241220 | 1.000 | 0.040 | 12 | 109237224 | synonymous variant | T/A;C;G | snv | 4.0E-06; 0.83 | 2 | ||
rs777249279 | 0.925 | 0.080 | 2 | 21006422 | missense variant | G/A;T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs4393158 | 1.000 | 0.040 | 1 | 209678552 | intron variant | A/G;T | snv | 2 | |||
rs377271627 | 0.925 | 0.080 | 19 | 11102769 | stop gained | C/G | snv | 4.0E-06 | 2 | ||
rs749780672 | 0.925 | 0.080 | 19 | 11113426 | missense variant | C/A;G | snv | 1.6E-05 | 2 | ||
rs1468271 | 1.000 | 0.040 | 7 | 24287362 | intron variant | C/T | snv | 0.97 | 2 | ||
rs879254896 | 0.925 | 0.080 | 19 | 11113599 | frameshift variant | GC/A | delins | 2 | |||
rs6066394 | 1.000 | 0.040 | 20 | 47581409 | intron variant | C/T | snv | 0.29 | 2 | ||
rs35605815 | 0.925 | 0.040 | 1 | 55052407 | frameshift variant | -/T | ins | 2 | |||
rs4072032 | 1.000 | 0.040 | 17 | 64378896 | intron variant | G/A | snv | 0.40 | 2 | ||
rs776478288 | 0.925 | 0.080 | 6 | 46716518 | missense variant | A/G | snv | 2 | |||
rs4646234 | 1.000 | 0.040 | 13 | 98684126 | 3 prime UTR variant | T/C | snv | 0.11 | 2 | ||
rs4148211 | 0.882 | 0.080 | 2 | 43844604 | missense variant | A/G | snv | 0.43 | 0.35 | 3 | |
rs17222772 | 0.925 | 0.120 | 13 | 30737959 | intron variant | A/T | snv | 3 | |||
rs17231896 | 0.925 | 0.120 | 16 | 56982180 | missense variant | G/A;C | snv | 3 | |||
rs3742207 | 0.925 | 0.120 | 13 | 110166251 | missense variant | T/A;G | snv | 2.8E-05; 0.30 | 3 |