Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs879254535 | 0.925 | 0.080 | 19 | 11105369 | missense variant | T/A;C;G | snv | 5 | |||
rs387906567 | 0.882 | 0.200 | 19 | 44908774 | missense variant | C/G;T | snv | 6.3E-06 | 4 | ||
rs1057519655 | 1.000 | 0.080 | 19 | 11105516 | missense variant | T/C;G | snv | 4.0E-06 | 2 | ||
rs11542035 | 19 | 44908706 | missense variant | G/A | snv | 1.9E-05 | 2.8E-05 | 1 | |||
rs730882087 | 19 | 11106640 | missense variant | GG/AC | mnv | 1 | |||||
rs11868035 | 0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 | 14 | |
rs1337503417 | 0.790 | 0.160 | 17 | 41612325 | missense variant | G/T | snv | 4.0E-06 | 12 | ||
rs2297508 | 0.790 | 0.240 | 17 | 17812003 | synonymous variant | C/G;T | snv | 0.50; 7.5E-05 | 8 | ||
rs12953258 | 1.000 | 0.080 | 17 | 78360015 | 5 prime UTR variant | T/A;G | snv | 2 | |||
rs762304200 | 17 | 7630716 | synonymous variant | A/G | snv | 2.8E-05 | 2 | ||||
rs78338345 | 1.000 | 0.080 | 17 | 75242428 | missense variant | C/G | snv | 7.7E-03 | 2.5E-03 | 2 | |
rs1421085 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 28 | ||
rs3764261 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 26 | ||
rs708272 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 24 | |
rs1800775 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 18 | ||
rs773641005 | 0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv | 14 | |||
rs711752 | 1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv | 10 | |||
rs12149545 | 0.851 | 0.080 | 16 | 56959249 | upstream gene variant | G/A | snv | 0.23 | 7 | ||
rs2292318 | 0.925 | 0.120 | 16 | 67951803 | intron variant | C/A;T | snv | 0.15 | 5 | ||
rs1800588 | 0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 | 16 | ||
rs2070895 | 0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 | 15 | ||
rs3742264 | 0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 | 17 | |
rs1265538677 | 0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 | 10 | ||
rs4773144 | 0.827 | 0.080 | 13 | 110308365 | intron variant | A/G | snv | 0.42 | 7 | ||
rs2297322 | 1.000 | 0.040 | 13 | 98723927 | missense variant | C/G;T | snv | 0.22 | 4 |