Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1487151044 | 0.851 | 0.080 | 10 | 31510817 | missense variant | T/C | snv | 5 | |||
rs754854286 | 1.000 | 0.120 | 10 | 31520432 | missense variant | G/C | snv | 3 | |||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs762471803 | 0.925 | 0.040 | 11 | 102114201 | missense variant | T/G | snv | 6 | |||
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs3213245 | 0.742 | 0.240 | 19 | 43575535 | 5 prime UTR variant | G/A | snv | 0.65 | 0.60 | 13 | |
rs1317052311 | X | 15358134 | missense variant | C/A | snv | 5.5E-06 | 1 | ||||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs1570360 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 38 | ||
rs1284410244 | 0.925 | 0.040 | 6 | 43778482 | missense variant | A/G | snv | 7.0E-06 | 4 | ||
rs1212415280 | 6 | 43771130 | missense variant | G/T | snv | 2.1E-05 | 2 | ||||
rs1196644309 | 1.000 | 0.080 | 1 | 145995155 | missense variant | G/A | snv | 3 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs762846821 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 56 | ||
rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 47 | ||
rs121912664 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 40 | ||
rs1057519975 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 21 | |||
rs121912651 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 21 | ||
rs760043106 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 16 | |||
rs1800372 | 0.752 | 0.240 | 17 | 7674892 | synonymous variant | T/A;C | snv | 1.3E-02 | 15 | ||
rs1131691036 | 0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins | 7 | |||
rs730882002 | 0.925 | 0.040 | 17 | 7674956 | missense variant | T/C | snv | 6 | |||
rs867114783 | 17 | 7675109 | missense variant | T/C | snv | 5 |