Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs529612732 | 1.000 | 0.200 | 3 | 138946218 | missense variant | C/T | snv | 3.2E-05 | 1.1E-04 | 1 | |
rs764243782 | 1.000 | 0.200 | 3 | 138946031 | inframe insertion | GCAGCTGCTGCAGCCGCTGCGGCTGCCGCC/-;GCAGCTGCTGCAGCCGCTGCGGCTGCCGCCGCAGCTGCTGCAGCCGCTGCGGCTGCCGCC | delins | 2.8E-05 | 1 | ||
rs121908359 | 0.851 | 0.240 | 3 | 138946163 | missense variant | C/T | snv | 4.5E-05 | 7.0E-06 | 4 | |
rs1057516145 | 1.000 | 0.200 | 3 | 138946528 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs1057516159 | 0.827 | 0.240 | 3 | 138946383 | missense variant | T/C | snv | 6 | |||
rs387906321 | 0.882 | 0.200 | 3 | 138946022 | inframe insertion | AGCCGCAGCTGCTGCAGCCGCTGCGGCTGC/-;AGCCGCAGCTGCTGCAGCCGCTGCGGCTGCAGCCGCAGCTGCTGCAGCCGCTGCGGCTGC | delins | 4.3E-05; 4.3E-05; 4.3E-05 | 3 | ||
rs797044528 | 0.882 | 0.200 | 3 | 138945919 | frameshift variant | G/-;GG | delins | 3 | |||
rs797044532 | 0.882 | 0.200 | 3 | 138945852 | frameshift variant | GGAGGCGGGGGTGCGGC/-;GGAGGCGGGGGTGCGGCGGAGGCGGGGGTGCGGC | delins | 3 | |||
rs104893741 | 0.925 | 0.200 | 3 | 138946068 | stop gained | G/A | snv | 2 | |||
rs28937884 | 0.925 | 0.200 | 3 | 138946472 | missense variant | A/C | snv | 2 | |||
rs387906920 | 0.925 | 0.200 | 3 | 138946518 | stop gained | C/A;T | snv | 2 | |||
rs863225452 | 0.925 | 0.200 | 3 | 138946530 | inframe insertion | -/GCGATGAGCGCCACG | delins | 2 | |||
rs104893739 | 1.000 | 0.200 | 3 | 138946137 | stop gained | G/A | snv | 1 | |||
rs1057516139 | 1.000 | 0.200 | 3 | 138946708 | stop gained | G/T | snv | 1 | |||
rs1057516140 | 1.000 | 0.200 | 3 | 138946680 | frameshift variant | G/- | delins | 1 | |||
rs1057516141 | 1.000 | 0.200 | 3 | 138946552 | stop gained | G/C | snv | 1 | |||
rs1057516142 | 1.000 | 0.200 | 3 | 138946550 | stop gained | G/C;T | snv | 1 | |||
rs1057516144 | 1.000 | 0.200 | 3 | 138946536 | missense variant | T/G | snv | 1 | |||
rs1057516149 | 1.000 | 0.200 | 3 | 138946431 | missense variant | A/G | snv | 1 | |||
rs1057516150 | 1.000 | 0.200 | 3 | 138946430 | stop gained | C/T | snv | 1 | |||
rs1057516151 | 1.000 | 0.200 | 3 | 138946420 | missense variant | G/C | snv | 1 | |||
rs1057516153 | 1.000 | 0.200 | 3 | 138946412 | missense variant | T/C | snv | 1 | |||
rs1057516156 | 1.000 | 0.200 | 3 | 138946407 | missense variant | G/A | snv | 1 | |||
rs1057516157 | 1.000 | 0.200 | 3 | 138946404 | missense variant | T/C | snv | 1 | |||
rs1057516158 | 1.000 | 0.200 | 3 | 138946385 | frameshift variant | A/- | del | 1 |