Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs11931074 | 0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv | 7 | |||
rs121917767 | 0.827 | 0.120 | 4 | 41260751 | missense variant | C/A;G;T | snv | 4.0E-05; 4.0E-06; 2.0E-05 | 6 | ||
rs13153459 | 0.925 | 0.040 | 5 | 44515833 | intron variant | A/C;T | snv | 2 | |||
rs1366901063 | 0.925 | 0.040 | 11 | 123060725 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs188286943 | 0.776 | 0.160 | 16 | 46662452 | missense variant | C/T | snv | 9 | |||
rs2066842 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 15 | ||
rs2736990 | 0.882 | 0.080 | 4 | 89757390 | intron variant | G/A;T | snv | 4 | |||
rs33939927 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 24 | ||
rs33949390 | 0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 | 9 | ||
rs3836790 | 0.882 | 0.080 | 5 | 1411740 | intron variant | -/ACATACACACTCAGACACACATACCATGCA | ins | 5 | |||
rs421016 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 30 | ||
rs56285021 | 0.925 | 0.040 | 5 | 122422868 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs763222239 | 0.827 | 0.040 | 3 | 184322862 | missense variant | G/A | snv | 4.0E-06 | 5 | ||
rs767543900 | 0.790 | 0.120 | 17 | 45971879 | missense variant | A/C;G | snv | 4.0E-06 | 10 | ||
rs823144 | 0.925 | 0.040 | 1 | 205775418 | 5 prime UTR variant | C/A;G | snv | 2 | |||
rs849898 | 0.925 | 0.040 | 1 | 227966216 | intergenic variant | A/C;G | snv | 2 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs34995376 | 0.807 | 0.080 | 12 | 40310435 | missense variant | G/A | snv | 7.0E-06 | 7 | ||
rs28363170 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 7 | ||
rs34015634 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 8 | |
rs374880482 | 0.925 | 0.040 | X | 85963748 | missense variant | T/C | snv | 3.3E-05 | 2.8E-05 | 2 | |
rs34410987 | 0.882 | 0.040 | 12 | 40283897 | missense variant | C/T | snv | 7.4E-04 | 2.2E-04 | 3 | |
rs112176450 | 0.807 | 0.080 | 3 | 184327401 | missense variant | G/A;T | snv | 2.1E-04 | 2.8E-04 | 7 | |
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 78 |