Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs267606826 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 38 | |||
rs767961672 | 0.925 | 0.200 | 14 | 28767822 | missense variant | G/A;T | snv | 4.0E-06 | 4 | ||
rs869312700 | 0.925 | 0.200 | 14 | 28768100 | missense variant | G/A | snv | 3 | |||
rs398124204 | 0.925 | 0.160 | 14 | 28767733 | frameshift variant | G/-;GG | delins | 2 | |||
rs879255530 | 0.925 | 0.160 | 14 | 28767832 | missense variant | A/T | snv | 2 | |||
rs1057516138 | 1.000 | 0.120 | 14 | 28767833 | missense variant | G/C;T | snv | 1 | |||
rs1064797186 | 1.000 | 0.120 | 14 | 28767964 | missense variant | A/C | snv | 1 | |||
rs121913678 | 1.000 | 0.120 | 14 | 28768044 | stop gained | G/A;T | snv | 1 | |||
rs138747073 | 0.925 | 0.120 | 14 | 28768479 | stop gained | C/A;G;T | snv | 6.0E-05 | 1 | ||
rs1452295073 | 1.000 | 0.120 | 14 | 28767780 | frameshift variant | G/-;GG | delins | 1 | |||
rs1555321206 | 1.000 | 0.120 | 14 | 28767449 | frameshift variant | -/GCCGCCCGCC | delins | 1 | |||
rs1555321237 | 1.000 | 0.120 | 14 | 28767493 | stop gained | C/T | snv | 1 | |||
rs1555321294 | 1.000 | 0.120 | 14 | 28767779 | frameshift variant | A/- | del | 1 | |||
rs1555321337 | 1.000 | 0.120 | 14 | 28767992 | missense variant | G/A | snv | 1 | |||
rs1555321351 | 1.000 | 0.120 | 14 | 28768043 | stop gained | G/A | snv | 1 | |||
rs1555321361 | 1.000 | 0.120 | 14 | 28768103 | missense variant | G/C | snv | 1 | |||
rs1555321380 | 1.000 | 0.120 | 14 | 28768223 | frameshift variant | C/- | delins | 1 | |||
rs1566445169 | 1.000 | 0.120 | 14 | 28767678 | frameshift variant | AGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGG/- | delins | 1 | |||
rs1566445489 | 1.000 | 0.120 | 14 | 28767982 | missense variant | C/T | snv | 1 | |||
rs1566445533 | 1.000 | 0.120 | 14 | 28768042 | missense variant | T/A | snv | 1 | |||
rs267606827 | 0.925 | 0.120 | 14 | 28768203 | stop gained | G/A | snv | 1 | |||
rs267606828 | 1.000 | 0.120 | 14 | 28767922 | missense variant | T/C | snv | 1 | |||
rs398124202 | 1.000 | 0.120 | 14 | 28767535 | stop gained | C/A;G;T | snv | 1 | |||
rs587783629 | 1.000 | 0.120 | 14 | 28767411 | frameshift variant | C/-;CC;CCC | delins | 1 | |||
rs587783631 | 1.000 | 0.120 | 14 | 28767447 | frameshift variant | ACCCGCCGCC/- | delins | 1 |