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 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs1800796 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 74 | ||
rs11549465 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 55 | |
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs4728142 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 18 | ||
rs121908117 | 0.708 | 0.440 | 3 | 48466707 | missense variant | G/A | snv | 17 | |||
rs1143679 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 14 | |
rs3764880 | 0.752 | 0.320 | X | 12906707 | start lost | A/G | snv | 0.31 | 0.30 | 11 | |
rs315952 | 0.763 | 0.400 | 2 | 113132727 | missense variant | T/A;C | snv | 4.0E-06; 0.31 | 10 | ||
rs4740 | 0.827 | 0.240 | 19 | 4236999 | missense variant | G/A | snv | 0.34 | 0.39 | 8 | |
rs6677604 | 0.827 | 0.200 | 1 | 196717788 | intron variant | G/A | snv | 0.23 | 7 | ||
rs2248098 | 0.925 | 0.120 | 12 | 47859573 | intron variant | A/G;T | snv | 4 | |||
rs28362930 | 0.925 | 0.160 | 15 | 74408859 | downstream gene variant | G/A | snv | 0.16 | 3 | ||
rs7704116 | 1.000 | 0.080 | 5 | 134216763 | intron variant | C/T | snv | 9.9E-02 | 2 |