Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1565679039 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 45 | |||
rs121912893 | 0.708 | 0.400 | 12 | 47983721 | stop gained | G/A;T | snv | 15 | |||
rs121912874 | 0.716 | 0.400 | 12 | 47978329 | missense variant | G/A | snv | 14 | |||
rs794727261 | 0.716 | 0.400 | 12 | 47999953 | stop gained | G/T | snv | 14 | |||
rs1057518908 | 0.882 | 0.120 | 12 | 47984112 | missense variant | C/T | snv | 6 | |||
rs121912880 | 0.882 | 0.080 | 12 | 47986353 | missense variant | C/A;T | snv | 3 | |||
rs121912891 | 0.882 | 0.080 | 12 | 47976052 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs121912882 | 0.851 | 0.280 | 12 | 47979534 | missense variant | G/A | snv | 2 | |||
rs1057518911 | 12 | 47976531 | missense variant | C/G | snv | 2 | |||||
rs765795867 | 12 | 47978098 | missense variant | C/A;T | snv | 2 | |||||
rs121912886 | 0.925 | 0.080 | 12 | 47974090 | missense variant | G/A;T | snv | 8.0E-05 | 2 | ||
rs121912889 | 0.851 | 0.160 | 12 | 47974234 | missense variant | T/C | snv | 2 | |||
rs121912876 | 0.925 | 0.280 | 12 | 47994041 | missense variant | G/A | snv | 2 | |||
rs1555167139 | 12 | 47985937 | missense variant | C/T | snv | 1 | |||||
rs1565681966 | 1.000 | 0.080 | 12 | 47985726 | splice donor variant | A/C | snv | 1 | |||
rs121912878 | 1.000 | 0.080 | 12 | 47978389 | missense variant | C/T | snv | 1 | |||
rs121912899 | 1.000 | 0.080 | 12 | 47985771 | missense variant | C/A | snv | 1 | |||
rs121912888 | 1.000 | 0.080 | 12 | 47985946 | missense variant | C/T | snv | 1 | |||
rs868417981 | 1.000 | 0.080 | 12 | 47986343 | missense variant | C/A;T | snv | 1 | |||
rs1555166729 | 1.000 | 0.080 | 12 | 47983699 | missense variant | C/T | snv | 1 | |||
rs121912879 | 0.925 | 0.080 | 12 | 47980017 | missense variant | C/G | snv | 1 | |||
rs1555165335 | 1.000 | 0.080 | 12 | 47978042 | inframe deletion | CACGGGGCCAGGAGGACC/- | delins | 1 | |||
rs672601354 | 1.000 | 0.160 | 12 | 47976889 | frameshift variant | -/AG | ins | 1 | |||
rs672601355 | 1.000 | 0.160 | 12 | 47987632 | inframe insertion | -/ACCCAGGAG | delins | 8.1E-06 | 1 | ||
rs121912877 | 1.000 | 0.240 | 12 | 47993825 | missense variant | C/T | snv | 1 |