Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1010269 | 17 | 61371584 | intron variant | A/G | snv | 0.74 | 1 | ||||
rs11122272 | 1 | 231335026 | 3 prime UTR variant | A/G | snv | 0.55 | 1 | ||||
rs372272284 | 2 | 46357720 | intron variant | A/G | snv | 1.5E-04 | 1 | ||||
rs4257266 | 17 | 59817098 | intron variant | A/G | snv | 0.60 | 1 | ||||
rs66782572 | 3 | 52533601 | missense variant | A/G | snv | 0.48 | 0.51 | 1 | |||
rs855791 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 17 | ||
rs1532085 | 0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv | 7 | |||
rs198846 | 6 | 26107235 | downstream gene variant | A/G;T | snv | 4 | |||||
rs218264 | 4 | 54542708 | intergenic variant | A/G;T | snv | 3 | |||||
rs768090 | 2 | 207138855 | intron variant | A/G;T | snv | 2 | |||||
rs4951074 | 1.000 | 0.040 | 1 | 203691653 | intron variant | A/G;T | snv | 1 | |||
rs62228060 | 22 | 45980504 | upstream gene variant | A/G;T | snv | 1 | |||||
rs1533988 | 7 | 1253374 | intergenic variant | A/T | snv | 0.59 | 6 | ||||
rs3847858 | 12 | 51924594 | downstream gene variant | A/T | snv | 8.9E-02 | 3 | ||||
rs11730623 | 4 | 69020433 | upstream gene variant | A/T | snv | 0.66 | 2 | ||||
rs4073770 | 3 | 12326734 | intron variant | A/T | snv | 0.25 | 1 | ||||
rs35542019 | 21 | 33974555 | non coding transcript exon variant | AA/-;A | delins | 0.57 | 3 | ||||
rs35750745 | 7 | 631957 | intron variant | AAA/-;AA;AAAA;AAAAA | delins | 2 | |||||
rs35812910 | 15 | 56439447 | intron variant | AAAAAA/-;AAAA;AAAAA;AAAAAAA | delins | 2 | |||||
rs149804345 | 3 | 56710234 | intergenic variant | AACAAA/-;AACAAAAACAAA;AACAAAAACAAAAACAAA | delins | 3 | |||||
rs8176643 | 9 | 133274294 | intron variant | C/- | del | 3 | |||||
rs13008603 | 2 | 46128709 | intron variant | C/A | snv | 0.10 | 3 | ||||
rs2732480 | 12 | 48342520 | 3 prime UTR variant | C/A | snv | 0.39 | 3 | ||||
rs4760682 | 12 | 48118502 | missense variant | C/A | snv | 0.85 | 0.87 | 3 | |||
rs11749327 | 1.000 | 0.120 | 5 | 457146 | non coding transcript exon variant | C/A | snv | 0.20 | 2 |