Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397514449 | 0.925 | 0.120 | 3 | 38550984 | protein altering variant | -/CAT | delins | 2 | |||
rs886037904 | 0.925 | 0.080 | 3 | 38554272 | coding sequence variant | -/CCAC | delins | 2 | |||
rs397514252 | 1.000 | 0.080 | 3 | 38620838 | splice donor variant | -/TT | delins | 1 | |||
rs199473573 | 0.925 | 0.120 | 3 | 38604007 | missense variant | A/C | snv | 1.6E-05 | 7.0E-06 | 2 | |
rs199473050 | 1.000 | 0.080 | 3 | 38633098 | missense variant | A/C | snv | 4.4E-05 | 1.4E-05 | 1 | |
rs199473053 | 1.000 | 0.080 | 3 | 38630422 | missense variant | A/C | snv | 1 | |||
rs199473092 | 0.925 | 0.080 | 3 | 38608175 | missense variant | A/C | snv | 1 | |||
rs199473176 | 1.000 | 0.080 | 3 | 38585728 | missense variant | A/C | snv | 1 | |||
rs199473221 | 1.000 | 0.080 | 3 | 38560424 | missense variant | A/C | snv | 1 | |||
rs199473232 | 1.000 | 0.080 | 3 | 38560340 | missense variant | A/C | snv | 1 | |||
rs199473236 | 1.000 | 0.080 | 3 | 38560313 | missense variant | A/C | snv | 1 | |||
rs199473274 | 1.000 | 0.080 | 3 | 38554380 | missense variant | A/C | snv | 1 | |||
rs199473566 | 1.000 | 0.080 | 3 | 38606689 | missense variant | A/C | snv | 1 | |||
rs199473156 | 1.000 | 0.080 | 3 | 38587545 | missense variant | A/C;G | snv | 1 | |||
rs41311117 | 0.882 | 0.120 | 3 | 38550362 | missense variant | A/C;G;T | snv | 3.6E-05; 2.0E-03; 1.0E-05 | 2 | ||
rs199473144 | 1.000 | 0.080 | 3 | 38597944 | missense variant | A/C;G;T | snv | 4.0E-06 | 1 | ||
rs199473639 | 1.000 | 0.080 | 3 | 38550469 | missense variant | A/C;G;T | snv | 1.6E-05; 4.1E-06; 4.1E-06 | 1 | ||
rs765669597 | 0.851 | 0.120 | 3 | 38614063 | stop gained | A/C;T | snv | 4.7E-06 | 4 | ||
rs137854615 | 0.851 | 0.120 | 3 | 38550989 | missense variant | A/G | snv | 1 | |||
rs199473052 | 1.000 | 0.080 | 3 | 38630425 | missense variant | A/G | snv | 1 | |||
rs199473066 | 1.000 | 0.080 | 3 | 38620910 | missense variant | A/G | snv | 1 | |||
rs199473103 | 0.925 | 0.120 | 3 | 38606102 | missense variant | A/G | snv | 1 | |||
rs199473164 | 1.000 | 0.080 | 3 | 38585962 | missense variant | A/G | snv | 1 | |||
rs199473178 | 1.000 | 0.080 | 3 | 38585695 | missense variant | A/G | snv | 1 | |||
rs199473179 | 1.000 | 0.080 | 3 | 38581355 | missense variant | A/G | snv | 1 |