Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs12817488 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 3 | ||
rs1224426272 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 6 | |||
rs1057518882 | MT | 14598 | missense variant | T/C | snv | 2 | |||||
rs886039227 | 0.925 | 0.200 | 2 | 74378123 | missense variant | A/C | snv | 4 | |||
rs387907571 | 0.827 | 0.080 | 3 | 132477995 | missense variant | A/G | snv | 4.2E-06 | 3.5E-05 | 6 | |
rs2421947 | 1.000 | 0.040 | 1 | 171863954 | intron variant | C/G;T | snv | 2 | |||
rs112176450 | 0.807 | 0.080 | 3 | 184327401 | missense variant | G/A;T | snv | 2.1E-04 | 2.8E-04 | 7 | |
rs113388242 | 0.925 | 0.080 | 3 | 184327376 | missense variant | C/T | snv | 4.0E-05 | 7.0E-05 | 3 | |
rs774457232 | 0.925 | 0.080 | 3 | 184331303 | missense variant | G/A;T | snv | 6.4E-05 | 3 | ||
rs121918304 | 0.925 | 0.080 | 22 | 32498453 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs762999184 | 1.000 | 0.080 | 22 | 32478989 | missense variant | C/A;T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs41311141 | 22 | 32484019 | synonymous variant | A/G;T | snv | 3.4E-02 | 1 | ||||
rs104894685 | 0.925 | 0.120 | 19 | 48966317 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 4 | |
rs758414077 | 19 | 48966681 | synonymous variant | G/A | snv | 8.0E-06 | 2.8E-05 | 1 | |||
rs76763715 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 35 | ||
rs421016 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 30 | ||
rs1289324472 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 21 | ||
rs2230288 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 18 | |
rs1555507479 | 0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv | 12 | |||
rs772784579 | 1.000 | 0.040 | 17 | 44352387 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs2942168 | 0.925 | 0.120 | 17 | 45637484 | non coding transcript exon variant | G/A;C;T | snv | 0.14 | 4 | ||
rs55739947 | 15 | 101010802 | missense variant | C/A | snv | 9.3E-03 | 8.4E-03 | 1 | |||
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 78 |