Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1466835565 | 10 | 69368539 | missense variant | A/G | snv | 1 | |||||
rs754747375 | 10 | 69369252 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 1 | |||
rs10509125 | 10 | 60167108 | intron variant | C/A | snv | 0.56 | 2 | ||||
rs35369693 | 1 | 206116696 | missense variant | C/G;T | snv | 4.3E-02 | 2 | ||||
rs2049161 | 18 | 4127583 | intron variant | A/C;T | snv | 0.22 | 2 | ||||
rs279827 | 4 | 46332685 | splice region variant | A/G;T | snv | 0.44 | 0.41 | 2 | |||
rs1799920 | 5 | 63961656 | missense variant | C/G;T | snv | 3.2E-04 | 2 | ||||
rs1799921 | 5 | 63961638 | missense variant | T/C | snv | 9.4E-03 | 9.3E-03 | 2 | |||
rs200754713 | 1 | 226888954 | missense variant | A/G | snv | 4.0E-06; 4.0E-06 | 2 | ||||
rs121964849 | 1.000 | 0.120 | 12 | 6869741 | missense variant | A/G | snv | 2 | |||
rs2400707 | 1.000 | 0.040 | 5 | 148825489 | 5 prime UTR variant | A/G;T | snv | 3 | |||
rs373288445 | 0.925 | 0.080 | 1 | 231694534 | missense variant | C/T | snv | 5.6E-05 | 4.2E-05 | 3 | |
rs773758385 | 0.925 | 0.080 | 1 | 231694162 | missense variant | C/T | snv | 1.0E-04 | 3.5E-05 | 3 | |
rs3915512 | 1.000 | 0.040 | 3 | 197295369 | intron variant | A/G;T | snv | 3 | |||
rs137853208 | 0.925 | 0.080 | 7 | 50504025 | missense variant | G/A | snv | 3 | |||
rs2074898 | 1.000 | 0.040 | 19 | 1391362 | intron variant | A/C;G | snv | 3 | |||
rs9983925 | 21 | 45216929 | intron variant | C/T | snv | 0.46 | 4 | ||||
rs2144025 | 0.925 | 0.080 | 6 | 151986571 | intron variant | T/A;C | snv | 4 | |||
rs279826 | 1.000 | 0.080 | 4 | 46332192 | intron variant | A/G | snv | 0.46 | 4 | ||
rs1555103646 | 1.000 | 0.040 | 12 | 13569964 | missense variant | C/A | snv | 4 | |||
rs4916723 | 0.925 | 0.040 | 5 | 88558577 | intron variant | A/C;G;T | snv | 4 | |||
rs121918805 | 0.925 | 0.080 | 2 | 166002660 | missense variant | C/A;T | snv | 2.0E-05 | 4 | ||
rs1133503 | 1.000 | 0.040 | 6 | 95606712 | 3 prime UTR variant | C/G;T | snv | 4 | |||
rs1059004 | 0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 | 4 | ||
rs1554121671 | 1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins | 4 |