Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs993022333 | 0.851 | 0.080 | 4 | 54733173 | missense variant | A/C;T | snv | 2 | |||
rs886040456 | 0.882 | 0.200 | 13 | 32337325 | frameshift variant | AACAAATGGGCAG/- | delins | 3 | |||
rs878853647 | 0.882 | 0.120 | 9 | 21971099 | missense variant | C/G;T | snv | 3 | |||
rs876658511 | 1.000 | 0.040 | 9 | 21971147 | frameshift variant | TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- | delins | 1 | |||
rs876658220 | 1.000 | 0.040 | 9 | 21971147 | frameshift variant | T/- | delins | 1 | |||
rs869312757 | 0.925 | 0.120 | 3 | 52405163 | stop gained | G/A;C | snv | 3 | |||
rs869025608 | 0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv | 9 | |||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 1 | |
rs80358683 | 0.851 | 0.120 | 13 | 32338880 | stop gained | C/T | snv | 5 | |||
rs794729219 | 0.882 | 0.240 | 7 | 140753352 | missense variant | A/G | snv | 2 | |||
rs786204195 | 0.851 | 0.200 | 9 | 21974686 | missense variant | G/A;T | snv | 1 | |||
rs78378222 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 1 | ||
rs776347334 | 1.000 | 0.040 | 2 | 211430974 | missense variant | C/T | snv | 1.2E-05 | 1 | ||
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 10 | ||
rs77064436 | 1.000 | 0.040 | 3 | 41224577 | missense variant | T/C;G | snv | 1 | |||
rs763576329 | 1.000 | 0.040 | 4 | 54285959 | missense variant | G/A;C | snv | 8.0E-06 | 1 | ||
rs727505017 | 0.882 | 0.200 | 3 | 12604201 | missense variant | A/G;T | snv | 3 | |||
rs727504317 | 0.807 | 0.320 | 15 | 66435145 | missense variant | G/A | snv | 6 | |||
rs727503094 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 1 | |||
rs587782228 | 0.882 | 0.120 | 1 | 45330557 | missense variant | C/A;T | snv | 4.2E-06; 4.2E-06 | 3 | ||
rs587779826 | 0.851 | 0.360 | 11 | 108267344 | splice donor variant | T/C | snv | 4.0E-06 | 5 | ||
rs559848002 | 0.925 | 0.120 | 9 | 21971147 | missense variant | T/C;G | snv | 4.7E-06 | 2 | ||
rs55671017 | 1.000 | 0.040 | 2 | 211705339 | missense variant | G/A;T | snv | 8.0E-06; 6.4E-04 | 1 | ||
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs535202189 | 1.000 | 0.040 | 2 | 211673256 | missense variant | C/T | snv | 6.8E-05 | 1 |