Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs526126 | 1.000 | 0.040 | 11 | 61857413 | intron variant | G/C;T | snv | 0.81; 8.0E-06 | 2 | ||
rs1800692 | 0.925 | 0.120 | 12 | 6333180 | missense variant | A/G | snv | 0.64 | 0.71 | 1 | |
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 1 | ||
rs2289195 | 1.000 | 0.040 | 2 | 25240614 | intron variant | G/A | snv | 0.41 | 0.41 | 1 | |
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 4 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 1 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 6 | |
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 3 | ||
rs4588 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 2 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 8 | |
rs2230365 | 0.925 | 0.160 | 6 | 31557671 | synonymous variant | C/T | snv | 0.16 | 0.13 | 2 | |
rs4534 | 0.925 | 0.240 | 8 | 142879686 | missense variant | C/T | snv | 8.4E-02 | 4.1E-02 | 1 | |
rs121918799 | 0.752 | 0.120 | 2 | 166015636 | missense variant | G/C | snv | 1.7E-03 | 1.6E-03 | 2 | |
rs121908445 | 0.925 | 0.040 | 7 | 148147542 | missense variant | T/C | snv | 3.3E-04 | 1.7E-04 | 1 | |
rs61753971 | 0.925 | 0.120 | X | 154030546 | missense variant | C/T | snv | 1.3E-04 | 1.1E-04 | 1 | |
rs375712202 | 1.000 | 0.040 | 11 | 124923339 | splice donor variant | C/T | snv | 9.6E-05 | 1.4E-05 | 1 | |
rs769581210 | 1.000 | 0.040 | 1 | 151405376 | missense variant | T/C | snv | 7.2E-05 | 3.5E-05 | 1 | |
rs762735676 | 1.000 | 0.040 | 17 | 31221945 | frameshift variant | TTT/-;TTTT | delins | 6.6E-05 | 1 | ||
rs561369202 | 1.000 | 0.040 | 1 | 151428152 | missense variant | T/C | snv | 6.4E-05 | 1.4E-05 | 1 | |
rs574158925 | 1.000 | 0.040 | 1 | 151427829 | missense variant | T/C | snv | 5.6E-05 | 2.8E-05 | 1 | |
rs778792467 | 1.000 | 0.040 | 1 | 151405692 | missense variant | G/C | snv | 4.4E-05 | 7.0E-06 | 1 | |
rs373783340 | 1.000 | 0.040 | 1 | 151406243 | missense variant | G/A | snv | 4.0E-05 | 1.2E-04 | 1 | |
rs782521991 | 0.925 | 0.040 | X | 154400848 | missense variant | C/G | snv | 3.5E-05 | 2.8E-05 | 1 | |
rs772572695 | 1.000 | 0.040 | 1 | 151406427 | missense variant | C/A;T | snv | 2.5E-05 | 1 | ||
rs749270162 | 1.000 | 0.040 | 1 | 151406620 | missense variant | T/C | snv | 2.4E-05 | 1 |