Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1418810723 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 9 | ||
rs1064795638 | 0.851 | 0.080 | 3 | 52403251 | stop gained | G/A | snv | 7 | |||
rs776935407 | 0.851 | 0.080 | 22 | 40409261 | missense variant | T/A | snv | 4.1E-06 | 6 | ||
rs1248131654 | 0.851 | 0.080 | 2 | 160367217 | missense variant | G/A | snv | 1.4E-05 | 4 | ||
rs1443434 | 0.851 | 0.080 | 9 | 97855197 | 3 prime UTR variant | G/T | snv | 0.63 | 4 | ||
rs145475805 | 0.882 | 0.080 | 8 | 132887509 | missense variant | A/G | snv | 8.8E-05 | 3.3E-04 | 4 | |
rs360717 | 0.851 | 0.080 | 11 | 112164002 | 5 prime UTR variant | G/A | snv | 0.25 | 4 | ||
rs4987206 | 0.851 | 0.080 | 12 | 916703 | missense variant | G/C | snv | 2.4E-03 | 9.6E-03 | 4 | |
rs7028661 | 0.882 | 0.080 | 9 | 97776188 | intron variant | A/G | snv | 0.72 | 4 | ||
rs71369530 | 0.851 | 0.080 | 9 | 97854419 | inframe insertion | GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC | delins | 0.68 | 4 | ||
rs768891111 | 0.851 | 0.080 | 14 | 103699474 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs78201625 | 0.851 | 0.080 | 10 | 113577182 | missense variant | C/T | snv | 2.4E-03 | 1.8E-03 | 4 | |
rs907580 | 0.851 | 0.080 | 9 | 97860315 | downstream gene variant | T/A;C;G | snv | 4 | |||
rs996807218 | 0.882 | 0.080 | 2 | 8827045 | missense variant | T/C | snv | 4 | |||
rs1031583860 | 0.882 | 0.080 | 11 | 58709815 | missense variant | T/C | snv | 3 | |||
rs1032006770 | 0.882 | 0.080 | 7 | 55160171 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs10951937 | 0.882 | 0.080 | 7 | 47992027 | intron variant | A/C | snv | 0.43 | 3 | ||
rs12769288 | 0.882 | 0.080 | 10 | 129488086 | intron variant | C/T | snv | 0.10 | 3 | ||
rs1365943053 | 0.882 | 0.080 | 9 | 95516630 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
rs180414 | 0.882 | 0.080 | 12 | 46775115 | synonymous variant | A/G | snv | 3.1E-03 | 3 | ||
rs2145418 | 0.882 | 0.080 | 1 | 118422631 | intergenic variant | C/A | snv | 0.78 | 3 | ||
rs2708896 | 0.882 | 0.080 | 7 | 47955186 | upstream gene variant | T/C;G | snv | 3 | |||
rs4658973 | 0.882 | 0.080 | 1 | 117956431 | intron variant | T/G | snv | 0.34 | 3 | ||
rs538912281 | 0.925 | 0.080 | 9 | 97854657 | missense variant | C/A;G;T | snv | 2.0E-03 | 3 | ||
rs7037324 | 0.882 | 0.080 | 9 | 97896036 | regulatory region variant | A/G | snv | 0.71 | 3 |