Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs653747 | 15 | 97659878 | intron variant | C/T | snv | 0.48 | 2 | ||||
rs739401 | 11 | 3015094 | intron variant | C/T | snv | 0.45 | 2 | ||||
rs1025423410 | 4 | 38798831 | start lost | T/C | snv | 1 | |||||
rs10521145 | 16 | 28585563 | intron variant | G/A | snv | 0.11 | 1 | ||||
rs11568054 | 1 | 230709809 | intron variant | G/A | snv | 3.6E-02 | 1 | ||||
rs1317776692 | 14 | 104701619 | missense variant | C/G;T | snv | 4.4E-06 | 1 | ||||
rs13293564 | 9 | 35166766 | intron variant | G/A;T | snv | 1 | |||||
rs1427118369 | 2 | 227283830 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 | |||
rs17880135 | 21 | 31669690 | upstream gene variant | T/G | snv | 3.9E-02 | 1 | ||||
rs17881180 | 21 | 31659974 | non coding transcript exon variant | C/T | snv | 3.8E-02 | 1 | ||||
rs204732 | 21 | 31720530 | intron variant | G/A | snv | 0.11 | 1 | ||||
rs4293 | 17 | 63478305 | non coding transcript exon variant | G/A | snv | 0.45 | 1 | ||||
rs55807605 | 1 | 196736919 | missense variant | G/A | snv | 1.4E-03 | 5.5E-04 | 1 | |||
rs57960694 | 1 | 196994083 | missense variant | G/A | snv | 1.1E-02 | 3.6E-02 | 1 | |||
rs776400293 | 4 | 186076620 | start lost | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs7947841 | 11 | 34470133 | intron variant | G/A | snv | 1.0E-01 | 1 | ||||
rs8731 | 2 | 27650459 | 3 prime UTR variant | C/G | snv | 0.22 | 1 | ||||
rs9275424 | 6 | 32702799 | downstream gene variant | A/G | snv | 0.30 | 1 | ||||
rs9896208 | 17 | 63498748 | intron variant | T/C | snv | 0.57 | 1 | ||||
rs9932581 | 16 | 88651945 | 3 prime UTR variant | C/T | snv | 0.39 | 1 | ||||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 |