Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4149081 | 1.000 | 0.040 | 12 | 21225087 | intron variant | G/A | snv | 0.18 | 5 | ||
rs12449157 | 1.000 | 0.040 | 16 | 67674994 | 3 prime UTR variant | A/G | snv | 0.30 | 4 | ||
rs768925824 | 0.925 | 0.040 | 19 | 11110693 | missense variant | G/A | snv | 4.0E-06 | 4 | ||
rs370507566 | 0.882 | 0.040 | 1 | 55057404 | missense variant | G/A;T | snv | 4.0E-05; 1.2E-05 | 3 | ||
rs970575319 | 0.882 | 0.040 | 1 | 55052408 | missense variant | A/T | snv | 3 | |||
rs1468271 | 1.000 | 0.040 | 7 | 24287362 | intron variant | C/T | snv | 0.97 | 2 | ||
rs2241220 | 1.000 | 0.040 | 12 | 109237224 | synonymous variant | T/A;C;G | snv | 4.0E-06; 0.83 | 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 | ||
rs4393158 | 1.000 | 0.040 | 1 | 209678552 | intron variant | A/G;T | snv | 2 | |||
rs4646234 | 1.000 | 0.040 | 13 | 98684126 | 3 prime UTR variant | T/C | snv | 0.11 | 2 | ||
rs6066394 | 1.000 | 0.040 | 20 | 47581409 | intron variant | C/T | snv | 0.29 | 2 | ||
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 | |||
rs16827671 | 1.000 | 0.040 | 1 | 150766283 | upstream gene variant | T/C | snv | 0.35 | 1 | ||
rs4823613 | 1.000 | 0.040 | 22 | 46202410 | intron variant | A/G | snv | 0.30 | 1 | ||
rs761675397 | 1.000 | 0.040 | 4 | 88114965 | missense variant | T/C | snv | 2.8E-05 | 2.8E-05 | 1 | |
rs770937716 | 1.000 | 0.040 | 19 | 11107405 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
rs879254894 | 1.000 | 0.040 | 19 | 11113593 | missense variant | A/G | snv | 1 | |||
rs879255203 | 1.000 | 0.040 | 19 | 11129534 | missense variant | T/C | snv | 2.4E-05 | 2.1E-05 | 1 | |
rs11191548 | 0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 | 10 | ||
rs368657165 | 0.827 | 0.080 | 19 | 11107436 | stop gained | G/A;T | snv | 4.0E-05 | 7 | ||
rs374045590 | 0.827 | 0.080 | 19 | 11129598 | missense variant | C/A;G | snv | 4.0E-06; 8.0E-06 | 7 | ||
rs121908030 | 0.851 | 0.080 | 19 | 11107484 | missense variant | G/A;C;T | snv | 4.0E-06 | 6 |