Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs429358 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 66 | |
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs7412 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 47 | |
rs76763715 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 35 | ||
rs1289324472 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 21 | ||
rs3736228 | 0.752 | 0.400 | 11 | 68433827 | missense variant | C/T | snv | 0.13 | 0.11 | 13 | |
rs700518 | 0.732 | 0.320 | 15 | 51236915 | synonymous variant | T/C | snv | 0.43 | 0.40 | 13 | |
rs2073617 | 0.776 | 0.360 | 8 | 118952044 | upstream gene variant | G/A | snv | 0.58 | 9 | ||
rs235768 | 0.807 | 0.160 | 20 | 6778468 | missense variant | A/G;T | snv | 0.67 | 8 | ||
rs4355801 | 0.882 | 0.120 | 8 | 118911634 | regulatory region variant | A/G;T | snv | 5 | |||
rs4988321 | 0.851 | 0.160 | 11 | 68406721 | missense variant | G/A;C | snv | 3.8E-02 | 4 | ||
rs749292 | 0.851 | 0.160 | 15 | 51266534 | intron variant | G/A | snv | 0.44 | 4 | ||
rs2273073 | 0.882 | 0.120 | 20 | 6770235 | missense variant | T/C;G | snv | 2.4E-02 | 3 | ||
rs312009 | 0.925 | 0.080 | 11 | 68309770 | upstream gene variant | T/A;C | snv | 2 | |||
rs780508132 | 0.925 | 0.080 | X | 32386352 | missense variant | T/A | snv | 5.5E-06 | 1.9E-05 | 2 |