Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7582977 | 1.000 | 0.080 | 2 | 174340785 | upstream gene variant | T/C | snv | 8.4E-02 | 1 | ||
rs776746 | 0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 | 21 | ||
rs3729740 | 0.882 | 0.080 | 5 | 38496535 | splice acceptor variant | C/T | snv | 2.2E-02 | 8.6E-03 | 3 | |
rs61764370 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 29 | ||
rs1053004 | 0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 | 11 | ||
rs3853839 | 0.752 | 0.480 | X | 12889539 | 3 prime UTR variant | C/G;T | snv | 10 | |||
rs13402783 | 1.000 | 0.080 | 2 | 85787998 | 3 prime UTR variant | A/G | snv | 8.7E-02 | 1 | ||
rs17201864 | 1.000 | 0.080 | 15 | 88877743 | 3 prime UTR variant | C/A;T | snv | 1 | |||
rs8602 | 1.000 | 0.080 | 1 | 46557859 | 3 prime UTR variant | C/A | snv | 0.22 | 1 | ||
rs1800734 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 30 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1801123 | 0.882 | 0.120 | 2 | 226796327 | synonymous variant | T/C | snv | 0.18 | 0.20 | 3 | |
rs11692570 | 1.000 | 0.080 | 2 | 6637860 | non coding transcript exon variant | C/T | snv | 0.16 | 1 | ||
rs2936519 | 1.000 | 0.080 | 8 | 6781719 | non coding transcript exon variant | G/A | snv | 0.20 | 1 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
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 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs4588 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 53 | ||
rs397517132 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 48 | |||
rs112445441 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 32 | |||
rs2227983 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 31 | ||
rs879253942 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 28 | |||
rs121434596 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 26 |