Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17296479 | 0.851 | 0.040 | 5 | 81411157 | non coding transcript exon variant | T/A | snv | 9.4E-02 | 5 | ||
rs144551722 | 0.851 | 0.040 | X | 43632629 | intergenic variant | G/A | snv | 0.13 | 4 | ||
rs75061358 | 0.882 | 0.040 | 7 | 54848587 | intergenic variant | T/C;G | snv | 4 | |||
rs13332653 | 0.882 | 0.040 | 16 | 24578078 | intergenic variant | T/G | snv | 0.11 | 3 | ||
rs9933544 | 0.882 | 0.040 | 16 | 24576962 | downstream gene variant | A/C | snv | 0.29 | 3 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs2291427 | 0.925 | 0.040 | 10 | 45440776 | intron variant | A/G;T | snv | 2 | |||
rs2440472 | 0.827 | 0.080 | 16 | 56402912 | intron variant | A/G | snv | 0.61 | 5 | ||
rs373191257 | 0.827 | 0.080 | 16 | 56363027 | missense variant | T/A | snv | 1.6E-05 | 7.0E-06 | 5 | |
rs3092993 | 0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 | 5 | ||
rs1555138291 | 0.925 | 0.240 | 11 | 108345859 | stop gained | G/A | snv | 2 | |||
rs76151636 | 0.776 | 0.280 | 13 | 51944145 | missense variant | G/A;T | snv | 4.0E-06; 9.2E-04 | 10 | ||
rs11548193 | 0.925 | 0.040 | 19 | 48799813 | missense variant | G/A;C | snv | 0.14 | 2 | ||
rs1320938886 | 0.851 | 0.040 | 1 | 169376605 | missense variant | T/G | snv | 4.0E-06 | 4 | ||
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 | |||
rs397507483 | 0.790 | 0.400 | 7 | 140753348 | missense variant | C/A;T | snv | 13 | |||
rs121913361 | 0.807 | 0.280 | 7 | 140753349 | missense variant | C/A;G;T | snv | 7 | |||
rs11571833 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 43 | |
rs1135401891 | 0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins | 7 | |||
rs11670188 | 0.925 | 0.040 | 19 | 2014038 | non coding transcript exon variant | A/G | snv | 0.16 | 2 | ||
rs373584770 | 0.827 | 0.120 | 11 | 105030337 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 5 | |
rs55705857 | 0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 | 16 | ||
rs4295627 | 0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 | 11 |