Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1557787212 | 1.000 | 0.120 | 1 | 17157671 | intergenic variant | G/T | snv | 1 | |||
rs398652 | 0.752 | 0.240 | 14 | 56058851 | intergenic variant | G/A | snv | 0.24 | 1 | ||
rs7675998 | 0.827 | 0.360 | 4 | 163086668 | intergenic variant | A/G;T | snv | 1 | |||
rs727505368 | 12 | 37253847 | intergenic variant | G/C;T | snv | 1 | |||||
rs1567518954 | 1.000 | 0.120 | 16 | 86072089 | regulatory region variant | -/TGTCGCCACTGCTATGATTAAAGCTGGGGAAGCTGGACTT | delins | 1 | |||
rs751959430 | 1.000 | 0.200 | 6 | 50167918 | intron variant | G/A | snv | 3.3E-04 | 1 | ||
rs1554264612 | 1.000 | 0.080 | 6 | 99593030 | downstream gene variant | G/T | snv | 1 | |||
rs1554264613 | 1.000 | 0.080 | 6 | 99593111 | downstream gene variant | G/C | snv | 1 | |||
rs1554264616 | 1.000 | 0.080 | 6 | 99593164 | downstream gene variant | C/T | snv | 1 | |||
rs11594656 | 0.776 | 0.240 | 10 | 6080046 | intergenic variant | T/A | snv | 0.18 | 1 | ||
rs41295061 | 0.790 | 0.360 | 10 | 6072697 | upstream gene variant | C/A | snv | 6.1E-02 | 1 | ||
rs3843763 | 20 | 45919554 | intergenic variant | C/T | snv | 0.29 | 1 | ||||
rs12821256 | 12 | 88934558 | TF binding site variant | T/A;C;G | snv | 1 | |||||
rs642742 | 12 | 88905969 | intergenic variant | C/T | snv | 0.37 | 1 | ||||
rs606231411 | 1.000 | 0.120 | 3 | 87310484 | intergenic variant | C/T | snv | 1 | |||
rs183130 | 16 | 56957451 | upstream gene variant | C/T | snv | 0.29 | 1 | ||||
rs61199332 | 1.000 | 0.080 | 8 | 11573132 | upstream gene variant | C/T | snv | 6.2E-02 | 1 | ||
rs3788853 | X | 129736814 | upstream gene variant | C/A | snv | 0.22 | 1 | ||||
rs35705950 | 0.763 | 0.240 | 11 | 1219991 | splice region variant | G/A;T | snv | 1 | |||
rs483352872 | 1.000 | 7 | 62535490 | intergenic variant | A/G | snv | 1 | ||||
rs669 | 0.851 | 0.080 | 12 | 9079672 | missense variant | T/C | snv | 0.31 | 0.33 | 1 | |
rs1409944554 | 1.000 | 12 | 8822661 | stop gained | C/T | snv | 4.0E-06 | 1 | |||
rs863224951 | 1.000 | 12 | 8852222 | frameshift variant | -/GGCTAAAT | delins | 1 | ||||
rs202067416 | 1.000 | 12 | 8868358 | splice donor variant | G/A;C | snv | 9.9E-04 | 1.1E-03 | 1 | ||
rs778598915 | 1.000 | 0.080 | 22 | 42693910 | synonymous variant | G/A;T | snv | 2.2E-05 | 1 |