Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5104 | 11 | 116821618 | missense variant | C/T | snv | 0.80 | 0.85 | 2 | |||
rs574363219 | 1.000 | 0.040 | 11 | 116790427 | missense variant | C/T | snv | 1.4E-04 | 2 | ||
rs777046568 | 1.000 | 0.080 | 11 | 116790802 | frameshift variant | G/- | del | 6.0E-05 | 7.0E-06 | 2 | |
rs120074114 | 19 | 44948767 | missense variant | A/C | snv | 6.9E-04 | 7.0E-04 | 2 | |||
rs1335550286 | 1.000 | 0.040 | 19 | 44909005 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
rs2187126 | 11 | 116765068 | intron variant | A/G | snv | 4.8E-02 | 2 | ||||
rs3825041 | 11 | 116760991 | intron variant | T/A;C | snv | 0.89 | 2 | ||||
rs11576175 | 1.000 | 1 | 150754918 | intron variant | G/A | snv | 7.2E-02 | 2 | |||
rs2808607 | 1.000 | 0.080 | 1 | 231405228 | intron variant | G/A | snv | 0.56 | 2 | ||
rs11122316 | 1.000 | 0.120 | 1 | 230101356 | intron variant | A/G | snv | 0.42 | 2 | ||
rs1997947 | 1.000 | 0.120 | 1 | 230148017 | intron variant | G/A | snv | 0.78 | 2 | ||
rs2760537 | 1.000 | 0.120 | 1 | 230190666 | intron variant | G/A | snv | 0.23 | 2 | ||
rs1451659304 | 1.000 | 0.040 | 16 | 868990 | missense variant | A/C | snv | 2 | |||
rs1468271 | 1.000 | 0.040 | 7 | 24287362 | intron variant | C/T | snv | 0.97 | 2 | ||
rs35414700 | 1.000 | 0.080 | 8 | 19955901 | missense variant | T/G | snv | 1.2E-05 | 1.4E-05 | 2 | |
rs748349562 | 1.000 | 0.080 | 8 | 19954131 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs6066394 | 1.000 | 0.040 | 20 | 47581409 | intron variant | C/T | snv | 0.29 | 2 | ||
rs615563 | 1.000 | 0.120 | 1 | 55060623 | intron variant | A/C;G | snv | 2 | |||
rs4072032 | 1.000 | 0.040 | 17 | 64378896 | intron variant | G/A | snv | 0.40 | 2 | ||
rs3758538 | 1.000 | 0.080 | 10 | 93602293 | intron variant | T/G | snv | 0.18 | 2 | ||
rs1289389 | 13 | 98684036 | 3 prime UTR variant | C/T | snv | 0.18 | 2 | ||||
rs4646234 | 1.000 | 0.040 | 13 | 98684126 | 3 prime UTR variant | T/C | snv | 0.11 | 2 | ||
rs41284589 | 1.000 | 0.040 | 1 | 84506243 | 5 prime UTR variant | G/A | snv | 5.4E-02 | 2 | ||
rs957970 | 1.000 | 0.040 | 17 | 42367872 | intron variant | A/G | snv | 0.36 | 2 | ||
rs9949617 | 18 | 23299253 | intron variant | C/T | snv | 0.22 | 2 |