Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113561019 | 1.000 | 0.080 | 3 | 9756791 | missense variant | G/A;T | snv | 3.9E-03; 4.0E-06 | 2 | ||
rs11777210 | 1.000 | 0.080 | 8 | 1979843 | intron variant | C/G;T | snv | 2 | |||
rs1374712964 | 1.000 | 0.080 | 1 | 45332028 | missense variant | T/C | snv | 2 | |||
rs1400826115 | 1.000 | 0.080 | 3 | 9756770 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
rs2279398 | 1.000 | 0.080 | 5 | 177503768 | 3 prime UTR variant | C/T | snv | 2.7E-02 | 2 | ||
rs664589 | 0.925 | 0.080 | 11 | 65501878 | non coding transcript exon variant | C/G | snv | 6.0E-02 | 3.8E-02 | 4 | |
rs1989969 | 0.827 | 0.120 | 12 | 47884227 | intron variant | A/C;G;T | snv | 0.60 | 8 | ||
rs2015 | 0.925 | 0.120 | 19 | 38878729 | 3 prime UTR variant | T/G | snv | 0.47 | 3 | ||
rs121908568 | 0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv | 8 | |||
rs1284806277 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 13 | ||
rs13278062 | 0.807 | 0.200 | 8 | 23225458 | non coding transcript exon variant | G/A;C;T | snv | 8 | |||
rs16906252 | 0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 | 17 | |
rs1801166 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 16 | |
rs201745983 | 0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 | 14 | |
rs2066842 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 15 | ||
rs41291957 | 0.882 | 0.200 | 5 | 149428827 | intron variant | G/A | snv | 0.12 | 7 | ||
rs4444235 | 0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 | 15 | ||
rs1126616 | 0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 | 8 | |
rs3138053 | 0.790 | 0.280 | 14 | 35405648 | upstream gene variant | T/C | snv | 0.26 | 10 | ||
rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 24 | |
rs777980327 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 21 | |
rs876658657 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 24 | ||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs187115 | 0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 | 22 | ||
rs2267437 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 19 |