Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1562846694 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 32 | |||
rs866294686 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 43 | |||
rs1555247672 | 0.827 | 0.200 | 12 | 116007542 | stop gained | G/A | snv | 14 | |||
rs1554122802 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 22 | |||
rs374052333 | 0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 | 27 | ||
rs114925667 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 64 | ||
rs797045905 | 0.851 | 0.360 | 2 | 135164629 | stop gained | T/G | snv | 5 | |||
rs797044849 | 0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 | 17 | ||
rs1569525894 | 0.790 | 0.280 | X | 136040055 | frameshift variant | TCTTCCTTAACCACCGC/- | delins | 14 | |||
rs397507481 | 0.882 | 0.240 | 7 | 140754206 | missense variant | G/C;T | snv | 4 | |||
rs180177035 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 35 | |||
rs137852981 | 0.752 | 0.480 | 2 | 144399104 | stop gained | G/A | snv | 30 | |||
rs28934906 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 46 | |||
rs796052505 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 57 | |||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs780533096 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 44 | ||
rs138632121 | 0.776 | 0.400 | 16 | 3026140 | missense variant | T/A | snv | 1.7E-04 | 2.0E-04 | 13 | |
rs200426926 | 0.776 | 0.400 | 16 | 3027379 | missense variant | G/A;T | snv | 1.8E-04; 4.0E-06 | 13 | ||
rs199469465 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 50 | |||
rs1554121443 | 0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv | 29 | |||
rs724159949 | 0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv | 15 | |||
rs724159950 | 1.000 | 0.200 | 21 | 37486571 | frameshift variant | TGAG/GAA | delins | 6 | |||
rs724159948 | 1.000 | 21 | 37490273 | stop gained | C/T | snv | 7 | ||||
rs724159954 | 21 | 37490353 | frameshift variant | -/A | delins | 6 | |||||
rs724159952 | 21 | 37490451 | frameshift variant | -/G | delins | 6 |