Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs748343847 | 0.827 | 0.080 | 1 | 20633708 | missense variant | G/A | snv | 6.9E-05 | 5 | ||
rs80356718 | 0.827 | 0.120 | 1 | 11022209 | missense variant | A/G | snv | 7.6E-05 | 4.9E-05 | 5 | |
rs1317187144 | 0.851 | 0.120 | 1 | 155239889 | missense variant | T/C | snv | 4.0E-06 | 4 | ||
rs71653619 | 1.000 | 0.040 | 1 | 7970934 | missense variant | G/A | snv | 7.9E-03 | 7.0E-03 | 4 | |
rs1411478 | 0.925 | 0.120 | 1 | 180993146 | intron variant | A/G | snv | 0.56 | 3 | ||
rs143061887 | 0.925 | 0.080 | 1 | 226881960 | missense variant | C/T | snv | 1.6E-05 | 5.6E-05 | 3 | |
rs324419 | 0.925 | 0.120 | 1 | 46406314 | stop gained | T/A;C | snv | 0.87 | 3 | ||
rs3738136 | 0.882 | 0.040 | 1 | 20645618 | missense variant | G/A | snv | 9.2E-02 | 5.0E-02 | 3 | |
rs439898 | 0.882 | 0.120 | 1 | 155238630 | missense variant | G/A | snv | 2.8E-05 | 3 | ||
rs74315356 | 0.925 | 0.040 | 1 | 20649054 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 3 | |
rs74315359 | 0.882 | 0.040 | 1 | 20644651 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 3 | |
rs754237376 | 0.882 | 0.080 | 1 | 171636161 | missense variant | C/T | snv | 4.8E-05 | 2.1E-05 | 3 | |
rs80356773 | 0.925 | 0.080 | 1 | 155235002 | missense variant | C/T | snv | 3 | |||
rs823114 | 1.000 | 0.040 | 1 | 205750404 | upstream gene variant | G/A | snv | 0.45 | 3 | ||
rs823118 | 0.925 | 0.080 | 1 | 205754444 | upstream gene variant | C/A;T | snv | 3 | |||
rs947211 | 0.925 | 0.040 | 1 | 205783537 | non coding transcript exon variant | A/G | snv | 0.64 | 3 | ||
rs1058885 | 0.925 | 0.080 | 1 | 109923844 | missense variant | T/C | snv | 0.38 | 0.39 | 2 | |
rs10788972 | 0.925 | 0.040 | 1 | 54106570 | intron variant | C/A | snv | 0.57 | 2 | ||
rs12069733 | 1.000 | 0.040 | 1 | 43475837 | TF binding site variant | G/A | snv | 0.37 | 2 | ||
rs1290094897 | 1.000 | 0.040 | 1 | 7962815 | synonymous variant | G/T | snv | 4.0E-06 | 2 | ||
rs1296507371 | 0.925 | 0.120 | 1 | 155237433 | missense variant | G/T | snv | 4.0E-06 | 2 | ||
rs138050841 | 0.925 | 0.040 | 1 | 20637894 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 2 | |
rs147277743 | 0.925 | 0.040 | 1 | 16991749 | missense variant | C/T | snv | 1.8E-04 | 7.7E-05 | 2 | |
rs151117874 | 0.925 | 0.040 | 1 | 17005754 | missense variant | G/A;C | snv | 9.4E-05; 4.1E-06 | 2 | ||
rs1572931 | 0.925 | 0.080 | 1 | 205775090 | splice region variant | C/A;T | snv | 0.14 | 2 |