Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1153879 | 0.925 | 0.080 | 3 | 136392816 | intron variant | G/T | snv | 2 | |||
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs953038635 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 51 | ||
rs1799768 | 0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins | 6 | |||
rs773829498 | 0.882 | 0.080 | 7 | 101130457 | missense variant | A/G | snv | 4.0E-06 | 3 | ||
rs4919510 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 32 | |
rs11137480 | 0.882 | 0.120 | 9 | 88989662 | upstream gene variant | G/C | snv | 0.37 | 3 | ||
rs7119750 | 0.882 | 0.120 | 11 | 65655120 | 3 prime UTR variant | C/G;T | snv | 3 | |||
rs842647 | 0.827 | 0.400 | 2 | 60892336 | intron variant | G/A | snv | 0.62 | 6 | ||
rs867186 | 0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 | 15 | |
rs2069948 | 0.851 | 0.160 | 20 | 35174686 | non coding transcript exon variant | C/T | snv | 0.55 | 0.62 | 5 | |
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs10865710 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 13 | ||
rs17036188 | 0.882 | 0.120 | 3 | 12299426 | intron variant | T/C | snv | 4.0E-02 | 3 | ||
rs2972164 | 0.925 | 0.080 | 3 | 12292917 | intron variant | T/C | snv | 0.46 | 3 | ||
rs4684846 | 0.882 | 0.080 | 3 | 12297350 | intron variant | A/G | snv | 0.28 | 3 | ||
rs2664581 | 0.882 | 0.120 | 20 | 45175881 | missense variant | A/C | snv | 0.16 | 0.16 | 3 | |
rs1800624 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 33 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2297518 | 0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 | 30 | |
rs2066844 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 54 | |
rs2066845 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 46 | ||
rs6958571 | 0.925 | 0.080 | 7 | 30446094 | intron variant | A/C;G | snv | 1.2E-05; 0.25; 5.3E-05 | 3 | ||
rs12048215 | 0.882 | 0.160 | 1 | 247421289 | intron variant | A/G | snv | 0.11 | 3 | ||
rs2027432 | 0.882 | 0.160 | 1 | 247415139 | upstream gene variant | A/G;T | snv | 3 |