Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28934904 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 9 | |||
rs61748421 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 9 | |||
rs104894743 | 0.807 | 0.200 | X | 25012937 | missense variant | G/A | snv | 7 | |||
rs121918524 | 0.827 | 0.200 | X | 54011232 | missense variant | A/G | snv | 6 | |||
rs724159950 | 1.000 | 0.200 | 21 | 37486571 | frameshift variant | TGAG/GAA | delins | 6 | |||
rs121918364 | 0.851 | 0.200 | X | 100662227 | missense variant | A/C | snv | 3.3E-05 | 2.9E-05 | 5 | |
rs1249144069 | 0.925 | 0.200 | 10 | 3165320 | missense variant | C/T | snv | 1.4E-05 | 5 | ||
rs1364926780 | 0.882 | 0.200 | 7 | 87550272 | missense variant | C/T | snv | 5 | |||
rs165656 | 0.925 | 0.200 | 22 | 19961340 | intron variant | G/A;C;T | snv | 5 | |||
rs199516560 | 0.851 | 0.200 | 7 | 87600772 | 5 prime UTR variant | G/A | snv | 2.1E-05 | 5 | ||
rs61748420 | 0.851 | 0.200 | X | 154031329 | missense variant | G/A;T | snv | 5 | |||
rs864309503 | 0.882 | 0.200 | 22 | 30941503 | missense variant | G/A | snv | 5 | |||
rs1404008939 | 0.925 | 0.200 | 7 | 87504324 | missense variant | A/C;G | snv | 4.0E-06 | 4 | ||
rs121434614 | 0.925 | 0.200 | X | 111196570 | missense variant | G/C | snv | 3 | |||
rs121918368 | 0.925 | 0.200 | 3 | 3150939 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 3 | |
rs121918523 | 0.925 | 0.200 | X | 54016662 | stop gained | T/A | snv | 3 | |||
rs122468181 | 0.925 | 0.200 | X | 119837771 | stop gained | G/A;T | snv | 3 | |||
rs1278838206 | 0.925 | 0.200 | X | 100296654 | missense variant | C/T | snv | 1.1E-05 | 3 | ||
rs1282813621 | 0.925 | 0.200 | X | 119837956 | missense variant | C/T | snv | 4.8E-05 | 3 | ||
rs132630328 | 0.925 | 0.200 | X | 30720721 | missense variant | A/G;T | snv | 5.4E-06 | 3 | ||
rs140032597 | 0.925 | 0.200 | X | 119837923 | missense variant | C/T | snv | 6.6E-05 | 1.1E-04 | 3 | |
rs1555050165 | 0.925 | 0.200 | 11 | 105926814 | missense variant | A/G | snv | 3 | |||
rs199469705 | 0.925 | 0.200 | 19 | 14564841 | missense variant | C/T | snv | 3 | |||
rs61748392 | 0.925 | 0.200 | X | 154031418 | missense variant | T/C | snv | 3 | |||
rs61749735 | 0.925 | 0.200 | X | 154031162 | synonymous variant | G/A;C | snv | 5.4E-06; 3.8E-05 | 3 |