Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1048798213 | 1.000 | 0.120 | 5 | 112837872 | missense variant | C/G | snv | 1 | |||
rs1442780982 | 1.000 | 0.120 | 5 | 112837977 | missense variant | C/A;G;T | snv | 4.0E-06 | 1 | ||
rs12553173 | 1.000 | 0.120 | 9 | 35674104 | synonymous variant | T/C | snv | 0.14 | 0.20 | 1 | |
rs587782274 | 1.000 | 0.120 | 11 | 108312465 | missense variant | A/C | snv | 1 | |||
rs876658517 | 1.000 | 0.120 | 11 | 108327735 | missense variant | A/G;T | snv | 1 | |||
rs706209 | 1.000 | 0.120 | 21 | 43053315 | 3 prime UTR variant | G/A | snv | 1 | |||
rs8101626 | 1.000 | 0.120 | 19 | 10135353 | intron variant | G/A | snv | 0.64 | 1 | ||
rs34048824 | 1.000 | 0.120 | 2 | 25312674 | intron variant | T/C | snv | 0.42 | 1 | ||
rs1397145500 | 1.000 | 0.120 | 17 | 64066782 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs78683075 | 1.000 | 0.120 | 17 | 17222565 | missense variant | G/A | snv | 2.6E-04 | 2.4E-04 | 1 | |
rs372947534 | 1.000 | 0.120 | 5 | 180626237 | missense variant | G/A | snv | 4.0E-05 | 6.3E-05 | 1 | |
rs1055259 | 1.000 | 0.120 | 1 | 109734239 | 3 prime UTR variant | T/C | snv | 0.12 | 1 | ||
rs71682980 | 1.000 | 0.120 | 14 | 23855957 | intergenic variant | A/-;AA;AAA;AAAA;AAAAA;AAAAAAA | delins | 1 | |||
rs2279776 | 1.000 | 0.120 | 9 | 8389364 | synonymous variant | C/G;T | snv | 0.50; 4.0E-06 | 1 | ||
rs147608663 | 1.000 | 0.120 | 5 | 97171338 | missense variant | A/G | snv | 2.8E-05; 8.1E-06 | 4.9E-05 | 1 | |
rs864321679 | 1.000 | 0.120 | 3 | 52563364 | frameshift variant | CACTATCT/- | delins | 1 | |||
rs1642742 | 1.000 | 0.120 | 3 | 10150259 | 3 prime UTR variant | G/A | snv | 0.57 | 1 | ||
rs1642743 | 1.000 | 0.120 | 3 | 10148783 | intron variant | C/G;T | snv | 1 | |||
rs11813268 | 0.925 | 0.120 | 10 | 103922538 | upstream gene variant | C/T | snv | 0.31 | 2 | ||
rs1417080 | 0.925 | 0.120 | 9 | 79515946 | non coding transcript exon variant | T/C | snv | 0.35 | 2 | ||
rs3118523 | 0.925 | 0.120 | 9 | 134443675 | downstream gene variant | G/A | snv | 0.75 | 2 | ||
rs6466135 | 0.925 | 0.120 | 7 | 106861053 | upstream gene variant | A/G | snv | 0.71 | 2 | ||
rs7132434 | 0.925 | 0.120 | 12 | 26319629 | non coding transcript exon variant | A/G | snv | 0.62 | 2 | ||
rs748964 | 0.925 | 0.120 | 9 | 134442243 | downstream gene variant | C/G;T | snv | 2 | |||
rs1154454 | 0.925 | 0.120 | 4 | 99417185 | intron variant | A/G | snv | 0.22 | 2 |