Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10234749 | 0.882 | 0.120 | 7 | 152690784 | regulatory region variant | T/C;G | snv | 3 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1043210477 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 19 | |||
rs1046428 | 0.776 | 0.200 | 14 | 77327940 | missense variant | T/A;C | snv | 4.0E-06; 0.81 | 8 | ||
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 73 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 73 | |||
rs1063192 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 24 | |||
rs10719 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 24 | ||
rs10743980 | 0.882 | 0.120 | 12 | 12259861 | intron variant | T/A;C;G | snv | 4 | |||
rs10759 | 0.851 | 0.160 | 1 | 163076561 | 3 prime UTR variant | G/A;T | snv | 4 | |||
rs11191438 | 0.882 | 0.120 | 10 | 102878107 | intron variant | G/A;C | snv | 3 | |||
rs11191439 | 0.851 | 0.120 | 10 | 102878966 | missense variant | T/A;C | snv | 9.2E-02 | 6 | ||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs1135612 | 0.882 | 0.120 | 7 | 75980359 | synonymous variant | A/G;T | snv | 0.28 | 3 | ||
rs1141718 | 0.724 | 0.280 | 6 | 159688224 | missense variant | A/G | snv | 15 | |||
rs11466445 | 0.851 | 0.160 | 9 | 99105256 | inframe insertion | GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG | delins | 5 | |||
rs11543198 | 0.882 | 0.120 | 15 | 74619987 | missense variant | G/A;T | snv | 0.11 | 3 | ||
rs11892031 | 0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv | 5 | |||
rs1194611372 | 0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv | 9 | |||
rs1203030830 | 0.882 | 0.120 | 7 | 55155873 | synonymous variant | T/C | snv | 4.0E-06 | 3 | ||
rs1208415127 | 0.827 | 0.160 | 3 | 50331654 | missense variant | G/A | snv | 4.0E-06 | 6 | ||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs121909218 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 25 |