Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1064795638 | 0.851 | 0.080 | 3 | 52403251 | stop gained | G/A | snv | 7 | |||
rs6793295 | 0.827 | 0.240 | 3 | 169800667 | missense variant | T/C;G | snv | 0.37; 1.8E-04 | 6 | ||
rs2221903 | 0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 | 12 | ||
rs12508721 | 0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 | 11 | ||
rs4833837 | 0.827 | 0.200 | 4 | 122615808 | synonymous variant | G/A | snv | 0.74 | 0.77 | 5 | |
rs13143866 | 0.851 | 0.200 | 4 | 122619603 | intron variant | G/A | snv | 0.24 | 4 | ||
rs78929565 | 0.882 | 0.080 | 4 | 55539035 | intron variant | C/A;T | snv | 3 | |||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs10069690 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 53 | ||
rs73227498 | 1.000 | 0.080 | 5 | 112150207 | intron variant | A/T | snv | 0.11 | 1 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs11077 | 0.732 | 0.320 | 6 | 43523209 | 3 prime UTR variant | T/G | snv | 0.47 | 14 | ||
rs2245214 | 0.827 | 0.240 | 6 | 106214866 | intron variant | C/G | snv | 0.42 | 6 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs397517132 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 48 | |||
rs2227983 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 31 | ||
rs56391007 | 0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 | 16 | |
rs33917957 | 0.790 | 0.120 | 7 | 116700208 | missense variant | A/G | snv | 2.7E-02 | 1.8E-02 | 10 | |
rs1169803481 | 0.807 | 0.160 | 7 | 55198851 | missense variant | A/G | snv | 4.0E-06 | 7 | ||
rs1032006770 | 0.882 | 0.080 | 7 | 55160171 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs10951937 | 0.882 | 0.080 | 7 | 47992027 | intron variant | A/C | snv | 0.43 | 3 | ||
rs2708896 | 0.882 | 0.080 | 7 | 47955186 | upstream gene variant | T/C;G | snv | 3 |