Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs181914721 | 1.000 | 0.040 | 15 | 83819856 | missense variant | G/A | snv | 3.7E-04 | 1.2E-04 | 2 | |
rs2074380 | 4 | 112432155 | missense variant | G/A;T | snv | 8.5E-03; 2.4E-05 | 2 | ||||
rs2074381 | 4 | 112432293 | missense variant | A/G | snv | 8.5E-03 | 5.5E-03 | 2 | |||
rs892066 | 1.000 | 0.080 | 19 | 11239664 | synonymous variant | C/G | snv | 0.22 | 0.33 | 2 | |
rs17791685 | 1.000 | 0.040 | 3 | 57272583 | 3 prime UTR variant | C/A | snv | 0.19 | 2 | ||
rs15673 | 1.000 | 0.040 | 17 | 68267123 | 3 prime UTR variant | C/A;T | snv | 7.0E-06 | 2 | ||
rs528035 | 1.000 | 0.040 | 3 | 57289142 | intron variant | A/G | snv | 0.48 | 0.37 | 2 | |
rs1042488900 | 1.000 | 0.040 | 1 | 161802188 | synonymous variant | C/T | snv | 2 | |||
rs1060366 | 1.000 | 0.040 | 1 | 116384040 | synonymous variant | A/G | snv | 1.3E-03 | 1.4E-03 | 2 | |
rs575152 | 1.000 | 0.040 | 18 | 79124480 | intron variant | C/T | snv | 0.14 | 2 | ||
rs1042615 | 1.000 | 0.040 | 12 | 63150429 | missense variant | A/C;G;T | snv | 0.60; 1.2E-05 | 2 | ||
rs10747983 | 1.000 | 0.040 | 12 | 63144678 | 3 prime UTR variant | G/A | snv | 0.29 | 2 | ||
rs35439639 | 1.000 | 0.080 | 1 | 206109537 | 3 prime UTR variant | C/G;T | snv | 2 | |||
rs35608965 | 1.000 | 0.080 | 1 | 206116919 | 5 prime UTR variant | A/G | snv | 4.9E-02 | 6.2E-02 | 2 | |
rs56381858 | 1.000 | 0.040 | 7 | 80671994 | stop gained | T/C;G | snv | 4.0E-06; 2.4E-04 | 2 | ||
rs768883824 | 1.000 | 0.040 | 7 | 80666481 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
rs1236009270 | 1.000 | 0.040 | 16 | 10977321 | synonymous variant | C/T | snv | 2 | |||
rs2671222 | 1.000 | 0.040 | 2 | 218167879 | upstream gene variant | T/C | snv | 0.89 | 2 | ||
rs4606565 | 1.000 | 0.040 | 12 | 124954003 | splice region variant | A/G | snv | 0.65 | 0.57 | 2 | |
rs2431332 | 1.000 | 0.040 | 5 | 79025286 | intron variant | A/G | snv | 0.18 | 2 | ||
rs527330902 | 1.000 | 0.040 | 13 | 95760205 | missense variant | C/A | snv | 1.2E-05 | 2 | ||
rs118081497 | 1.000 | 0.040 | 12 | 92782070 | missense variant | A/T | snv | 1.1E-02 | 3.3E-03 | 2 | |
rs2335491 | 1.000 | 0.040 | 4 | 1017278 | intron variant | T/A;G | snv | 9.5E-06 | 2 | ||
rs17137004 | 1.000 | 0.040 | 7 | 114389196 | intron variant | A/G | snv | 0.38 | 2 | ||
rs150179526 | 1.000 | 0.040 | 2 | 162144091 | missense variant | T/C;G | snv | 2.7E-03 | 2 |