Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1132896 | 16 | 55485623 | synonymous variant | G/C | snv | 0.31 | 0.26 | 1 | |||
rs11548491 | 11 | 72237492 | missense variant | C/G;T | snv | 9.6E-02 | 1 | ||||
rs11628722 | 14 | 94464768 | missense variant | A/G | snv | 0.78 | 0.71 | 1 | |||
rs11670734 | 19 | 29580124 | intergenic variant | C/G | snv | 0.63 | 1 | ||||
rs11681884 | 2 | 113090051 | downstream gene variant | C/T | snv | 0.21 | 1 | ||||
rs12291066 | 11 | 12213613 | intron variant | G/A | snv | 3.6E-02 | 1 | ||||
rs12417971 | 11 | 69202341 | intergenic variant | C/T | snv | 6.4E-02 | 1 | ||||
rs12442374 | 15 | 56012299 | intergenic variant | C/G;T | snv | 1 | |||||
rs12646447 | 4 | 110778170 | intergenic variant | T/C | snv | 0.15 | 1 | ||||
rs1290267513 | 10 | 113146078 | missense variant | G/A | snv | 4.0E-06 | 7.1E-06 | 1 | |||
rs13168506 | 5 | 136060763 | intron variant | A/G | snv | 0.57 | 1 | ||||
rs13407662 | 2 | 53555422 | intron variant | C/T | snv | 4.4E-02 | 1 | ||||
rs145067756 | 17 | 48923631 | intron variant | -/AAACAATGTCACAG;AAAGAATGTCACAG;AAAGAATGTCGCAG;AATGTCACAG;AGAGAATGTCACAG | delins | 0.40 | 1 | ||||
rs147565266 | 2 | 187446788 | intron variant | T/A | snv | 2.1E-05 | 1 | ||||
rs1480544 | 4 | 170066485 | splice region variant | A/G;T | snv | 0.57; 4.0E-04 | 1 | ||||
rs148158062 | 1 | 147468451 | intron variant | -/GTTCCTTC | delins | 1 | |||||
rs1564060 | 14 | 84159449 | intergenic variant | A/G | snv | 0.68 | 1 | ||||
rs1568362252 | 19 | 15192490 | missense variant | C/T | snv | 1 | |||||
rs161802 | 1 | 7982766 | intron variant | G/T | snv | 0.25 | 1 | ||||
rs16851055 | 3 | 141080371 | non coding transcript exon variant | G/A | snv | 0.26 | 1 | ||||
rs17329620 | 12 | 87757000 | upstream gene variant | A/C;G | snv | 0.11 | 1 | ||||
rs17347800 | 7 | 18477656 | intron variant | G/A;T | snv | 1 | |||||
rs1767788 | 6 | 44627656 | regulatory region variant | C/T | snv | 0.75 | 1 | ||||
rs17771318 | 10 | 48703312 | intron variant | G/A | snv | 2.9E-02 | 1 | ||||
rs1800542 | 6 | 12292295 | intron variant | G/A | snv | 5.6E-02 | 0.11 | 1 |