Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4919686 | 0.851 | 0.200 | 10 | 102832492 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 4 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs2472680 | 0.882 | 0.160 | 3 | 119808929 | intron variant | T/C | snv | 0.90 | 3 | ||
rs776188535 | 0.882 | 0.120 | 10 | 121485414 | missense variant | C/T | snv | 2.0E-05 | 3 | ||
rs121918508 | 0.851 | 0.360 | 10 | 121488035 | missense variant | C/T | snv | 4 | |||
rs779566502 | 0.882 | 0.120 | 10 | 121520026 | missense variant | C/T | snv | 1.6E-05 | 3 | ||
rs1057517779 | 0.851 | 0.160 | 9 | 124493083 | missense variant | G/A | snv | 4 | |||
rs745564225 | 0.925 | 0.120 | 9 | 124493110 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs1064794281 | 0.925 | 0.120 | 9 | 124500125 | missense variant | A/T | snv | 2 | |||
rs1110061 | 0.807 | 0.200 | 9 | 124500523 | missense variant | C/A;G | snv | 4.3E-06; 0.10 | 7 | ||
rs1110062 | 0.925 | 0.120 | 9 | 124500585 | synonymous variant | C/A;T | snv | 2.2E-02 | 2 | ||
rs2999052 | 1.000 | 0.120 | 3 | 128173194 | intron variant | T/C | snv | 0.30 | 1 | ||
rs17262815 | 1.000 | 0.120 | 8 | 129478919 | intron variant | T/C | snv | 0.13 | 1 | ||
rs10979 | 1.000 | 0.120 | 6 | 143568902 | intron variant | G/A | snv | 0.62 | 1 | ||
rs377263651 | 0.882 | 0.120 | X | 150470307 | missense variant | A/G | snv | 1.1E-05 | 1.9E-05 | 3 | |
rs781975575 | 0.882 | 0.120 | X | 150470715 | missense variant | G/A | snv | 5.5E-06 | 1.9E-05 | 3 | |
rs6932902 | 0.882 | 0.160 | 6 | 152055389 | intron variant | G/A | snv | 0.22 | 3 | ||
rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 43 | ||
rs13124827 | 1.000 | 0.120 | 4 | 156419058 | intergenic variant | C/T | snv | 0.37 | 1 | ||
rs4563609 | 1.000 | 0.120 | 5 | 158490267 | intron variant | G/A | snv | 0.73 | 1 | ||
rs3757824 | 0.882 | 0.160 | 7 | 17296411 | non coding transcript exon variant | T/C;G | snv | 3 | |||
rs1365908231 | 0.925 | 0.120 | 1 | 212619442 | missense variant | A/C | snv | 2 | |||
rs1801085 | 1.000 | 0.120 | 7 | 27128971 | splice region variant | A/G | snv | 0.16 | 1 | ||
rs10214930 | 1.000 | 0.120 | 7 | 27745330 | intron variant | G/A | snv | 0.20 | 1 | ||
rs6785358 | 0.882 | 0.200 | 3 | 30602723 | upstream gene variant | G/A | snv | 0.84 | 4 |