Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199473000 | 1.000 | 0.120 | 7 | 150949031 | missense variant | C/G;T | snv | 2 | |||
rs587777907 | 1.000 | 0.120 | 7 | 150958319 | missense variant | T/A | snv | 2.0E-05 | 2 | ||
rs1131692183 | 1.000 | 0.120 | 7 | 150948456 | frameshift variant | -/CCTGC | delins | 1 | |||
rs1131692327 | 1.000 | 0.120 | 7 | 150947632 | frameshift variant | TTCTC/- | delins | 1 | |||
rs121912505 | 1.000 | 0.120 | 7 | 150952574 | missense variant | T/C | snv | 1 | |||
rs121912509 | 1.000 | 0.120 | 7 | 150947477 | stop gained | C/G;T | snv | 5.2E-06 | 1 | ||
rs121912513 | 1.000 | 0.120 | 7 | 150948866 | missense variant | T/A;C;G | snv | 1 | |||
rs138498207 | 1.000 | 0.120 | 7 | 150950195 | missense variant | G/A | snv | 7.6E-05 | 2.6E-04 | 1 | |
rs143512106 | 1.000 | 0.120 | 7 | 150948483 | missense variant | G/A;T | snv | 2.2E-04; 8.0E-06 | 1 | ||
rs149955375 | 1.000 | 0.120 | 7 | 150947623 | missense variant | G/A | snv | 1.3E-04 | 2.2E-04 | 1 | |
rs1554423863 | 1.000 | 0.120 | 7 | 150947005 | stop gained | G/A | snv | 1 | |||
rs1554424099 | 1.000 | 0.120 | 7 | 150947389 | stop gained | -/GGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCAC | delins | 1 | |||
rs1554425498 | 1.000 | 0.120 | 7 | 150951028 | frameshift variant | C/- | delins | 1 | |||
rs1554425569 | 1.000 | 0.120 | 7 | 150951114 | missense variant | A/C | snv | 1 | |||
rs1554426258 | 1.000 | 0.120 | 7 | 150952721 | frameshift variant | T/- | del | 1 | |||
rs1563148264 | 1.000 | 0.120 | 7 | 150947866 | frameshift variant | G/- | delins | 1 | |||
rs1563152963 | 1.000 | 0.120 | 7 | 150950166 | splice donor variant | A/T | snv | 1 | |||
rs1563156868 | 1.000 | 0.120 | 7 | 150951545 | stop gained | G/C | snv | 1 | |||
rs1563189895 | 1.000 | 0.120 | 7 | 150974773 | missense variant | A/G | snv | 1 | |||
rs199472825 | 1.000 | 0.120 | 7 | 150977867 | missense variant | T/G | snv | 4.2E-06 | 1 | ||
rs199472827 | 1.000 | 0.120 | 7 | 150974941 | missense variant | C/A | snv | 1 | |||
rs199472832 | 1.000 | 0.120 | 7 | 150974929 | missense variant | A/G | snv | 1 | |||
rs199472833 | 1.000 | 0.120 | 7 | 150974926 | missense variant | A/C;G;T | snv | 1 | |||
rs199472834 | 1.000 | 0.120 | 7 | 150974924 | missense variant | C/T | snv | 1 | |||
rs199472835 | 1.000 | 0.120 | 7 | 150974897 | missense variant | C/A;G | snv | 1 |