Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12688220 | 0.827 | 0.200 | X | 107001537 | upstream gene variant | C/T | snv | 0.19 | 5 | ||
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 53 | ||
rs1569119395 | 0.925 | 0.120 | 22 | 45949926 | stop gained | G/A | snv | 2 | |||
rs767494439 | 1.000 | 0.120 | 22 | 17191686 | missense variant | T/C | snv | 2.4E-05 | 1 | ||
rs372883 | 0.827 | 0.360 | 21 | 29345416 | 3 prime UTR variant | T/C | snv | 0.53 | 5 | ||
rs121913495 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 28 | |||
rs34309238 | 1.000 | 0.120 | 19 | 14464085 | missense variant | C/A;T | snv | 4.9E-03; 4.0E-06 | 1 | ||
rs757797666 | 0.925 | 0.240 | 18 | 22171617 | missense variant | G/T | snv | 1.4E-05 | 3 | ||
rs1344011 | 1.000 | 0.120 | 18 | 54937957 | splice region variant | C/T | snv | 0.20 | 0.17 | 1 | |
rs762846821 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 57 | ||
rs1064793929 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 5 | |||
rs1284110310 | 0.882 | 0.200 | 17 | 39706999 | missense variant | G/A | snv | 7.0E-06 | 5 | ||
rs1719217 | 1.000 | 0.120 | 17 | 36080352 | intron variant | T/A;G | snv | 1 | |||
rs151341424 | 0.925 | 0.120 | 15 | 74190856 | missense variant | CC/TT | mnv | 3 | |||
rs118203958 | 1.000 | 0.120 | 15 | 74190889 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs118203959 | 1.000 | 0.120 | 15 | 74180121 | missense variant | G/A | snv | 1.6E-05 | 1 | ||
rs118203960 | 1.000 | 0.120 | 15 | 74180153 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 1 | |
rs118203961 | 1.000 | 0.120 | 15 | 74196145 | missense variant | G/A | snv | 1 | |||
rs118203962 | 1.000 | 0.120 | 15 | 74189244 | missense variant | T/G | snv | 5.4E-04 | 4.1E-04 | 1 | |
rs144691445 | 1.000 | 0.120 | 15 | 74180171 | missense variant | C/A;G;T | snv | 1.6E-05 | 1 | ||
rs1555457882 | 1.000 | 0.120 | 15 | 74202151 | splice region variant | TT/- | del | 1 | |||
rs1555457919 | 1.000 | 0.120 | 15 | 74202231 | frameshift variant | -/G;GG | delins | 1 | |||
rs1567177198 | 1.000 | 0.120 | 15 | 74181302 | frameshift variant | -/A | delins | 1 | |||
rs267607096 | 1.000 | 0.120 | 15 | 74202199 | stop gained | C/T | snv | 5.6E-06 | 1 | ||
rs397514638 | 1.000 | 0.120 | 15 | 74181301 | missense variant | C/G;T | snv | 4.0E-06 | 1 |