Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs755683317 | 21 | 10567746 | missense variant | G/A;C | snv | 2.4E-05 | 3 | ||||
rs778826879 | 16 | 30121948 | missense variant | C/G;T | snv | 1.2E-05; 8.0E-06 | 3 | ||||
rs1227480017 | 2 | 10122697 | synonymous variant | C/A | snv | 1 | |||||
rs12613347 | 2 | 201190589 | intron variant | C/T | snv | 0.19 | 1 | ||||
rs143752852 | 3 | 49902723 | missense variant | A/G | snv | 8.8E-05 | 5.6E-05 | 1 | |||
rs150423237 | 7 | 55173087 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 | 1 | |||
rs16906079 | 9 | 117712651 | missense variant | A/G | snv | 6.5E-04 | 4.3E-04 | 1 | |||
rs17429138 | 3 | 189527804 | intergenic variant | A/G | snv | 0.26 | 1 | ||||
rs199647144 | 1 | 156842109 | missense variant | T/C;G | snv | 8.8E-05; 4.0E-06 | 1 | ||||
rs3764221 | 15 | 51296650 | intron variant | G/A;T | snv | 1 | |||||
rs4396880 | 3 | 189638432 | intron variant | G/A | snv | 0.34 | 1 | ||||
rs542027040 | 17 | 39724864 | missense variant | C/T | snv | 1.2E-05 | 1 | ||||
rs736775 | 5 | 151029787 | downstream gene variant | T/C | snv | 0.56 | 1 | ||||
rs750749 | 6 | 14141866 | downstream gene variant | T/C | snv | 0.27 | 1 | ||||
rs779577244 | 10 | 32017334 | missense variant | C/A | snv | 4.0E-06 | 1 | ||||
rs782212015 | 19 | 41721077 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 1 | |||
rs8038415 | 15 | 98956205 | intron variant | T/C | snv | 0.58 | 1 | ||||
rs863225307 | 5 | 112819077 | stop gained | C/T | snv | 1 | |||||
rs9370729 | 6 | 14138061 | downstream gene variant | C/T | snv | 0.44 | 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 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 |