Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1502593 | 1.000 | 0.040 | 10 | 100349445 | intron variant | G/A | snv | 0.34 | 3 | ||
rs508384 | 10 | 100365004 | downstream gene variant | C/A;T | snv | 2 | |||||
rs374019283 | 0.882 | 0.200 | 3 | 10039759 | synonymous variant | T/C | snv | 4.0E-05 | 2.2E-04 | 5 | |
rs865862446 | 0.882 | 0.200 | 3 | 10049416 | missense variant | G/A | snv | 5 | |||
rs10132552 | 1.000 | 0.040 | 14 | 100834675 | non coding transcript exon variant | T/C | snv | 0.25 | 3 | ||
rs10165970 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 18 | ||
rs17024869 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 18 | ||
rs11160608 | 14 | 100846756 | non coding transcript exon variant | A/C;T | snv | 2 | |||||
rs7158663 | 0.827 | 0.240 | 14 | 100853087 | non coding transcript exon variant | A/G | snv | 0.42 | 9 | ||
rs758448528 | 7 | 100860024 | missense variant | G/T | snv | 4.0E-06 | 2 | ||||
rs895520 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 23 | ||
rs7581886 | 0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 | 18 | ||
rs4919510 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 32 | |
rs10895068 | 0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 | 14 | ||
rs1057519825 | 0.882 | 0.120 | X | 101356176 | missense variant | C/G | snv | 7 | |||
rs1057519826 | 0.882 | 0.120 | X | 101356177 | missense variant | A/T | snv | 7 | |||
rs2288349 | 0.882 | 0.120 | 19 | 10146569 | intron variant | G/A | snv | 0.36 | 0.35 | 5 | |
rs780178275 | 0.851 | 0.200 | 3 | 10146586 | missense variant | C/T | snv | 8.0E-06 | 7 | ||
rs2228611 | 0.708 | 0.520 | 19 | 10156401 | synonymous variant | T/A;C | snv | 0.52 | 19 | ||
rs3730477 | 0.925 | 0.080 | 10 | 101580299 | missense variant | G/A | snv | 0.17 | 0.16 | 4 | |
rs2228612 | 0.763 | 0.160 | 19 | 10162696 | missense variant | T/A;C;G | snv | 0.14 | 12 | ||
rs16999593 | 0.742 | 0.240 | 19 | 10180505 | missense variant | T/C | snv | 2.4E-02 | 9.6E-03 | 14 | |
rs762471803 | 0.925 | 0.040 | 11 | 102114201 | missense variant | T/G | snv | 6 | |||
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs1284806277 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 13 |