Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1804826 | 1.000 | 0.080 | 19 | 18388428 | synonymous variant | G/T | snv | 0.27 | 0.23 | 1 | |
rs1654413 | 1.000 | 0.080 | 19 | 55014991 | missense variant | A/G;T | snv | 3.7E-05; 2.0E-05; 0.80; 4.4E-04 | 1 | ||
rs2251375 | 1.000 | 0.080 | 11 | 1998266 | intron variant | C/A | snv | 1 | |||
rs5752326 | 1.000 | 0.080 | 22 | 26448024 | intron variant | C/G;T | snv | 1 | |||
rs2293871 | 1.000 | 0.080 | 10 | 122514155 | intron variant | C/T | snv | 0.22 | 0.18 | 1 | |
rs79043147 | 1.000 | 0.080 | 10 | 122473665 | intron variant | C/T | snv | 3.9E-02 | 1 | ||
rs1051922 | 1.000 | 0.080 | 9 | 21077717 | synonymous variant | G/A | snv | 0.33 | 0.35 | 1 | |
rs9333358 | 1.000 | 0.080 | 9 | 21078953 | upstream gene variant | T/C | snv | 0.20 | 1 | ||
rs2228144 | 1.000 | 0.080 | 1 | 154429203 | synonymous variant | G/A | snv | 0.14 | 0.13 | 1 | |
rs589247 | 1.000 | 0.080 | 18 | 11992726 | intron variant | T/C | snv | 0.39 | 1 | ||
rs1389285263 | 1.000 | 0.080 | 16 | 30499144 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs11712039 | 1.000 | 0.080 | 3 | 124254739 | intron variant | C/G;T | snv | 1 | |||
rs7620580 | 1.000 | 0.080 | 3 | 124326456 | intron variant | G/A | snv | 0.80 | 1 | ||
rs701230 | 1.000 | 0.080 | 1 | 233635529 | intron variant | C/G | snv | 0.18 | 1 | ||
rs1934066 | 1.000 | 0.080 | 1 | 245508389 | intron variant | C/T | snv | 0.85 | 1 | ||
rs906600204 | 1.000 | 0.080 | 17 | 75569087 | frameshift variant | -/ACTT | delins | 1 | |||
rs8028726 | 1.000 | 0.080 | 15 | 95588731 | intergenic variant | G/T | snv | 0.49 | 1 | ||
rs1842681 | 1.000 | 0.080 | 18 | 24761199 | intron variant | A/G;T | snv | 1 | |||
rs16924159 | 1.000 | 0.080 | 9 | 6229417 | intron variant | G/A | snv | 0.28 | 1 | ||
rs16863323 | 1.000 | 0.080 | 3 | 151342280 | intron variant | C/A;T | snv | 1 | |||
rs12128240 | 1.000 | 0.080 | 1 | 9151244 | non coding transcript exon variant | C/G;T | snv | 1 | |||
rs6577555 | 1.000 | 0.080 | 1 | 9152228 | intron variant | A/C | snv | 0.74 | 1 | ||
rs1062708 | 1.000 | 0.080 | 19 | 49010016 | missense variant | C/A;G;T | snv | 4.3E-06; 1.7E-05; 0.48 | 1 | ||
rs2240183 | 1.000 | 0.080 | 22 | 30966153 | intron variant | C/T | snv | 0.40 | 1 | ||
rs40593 | 1.000 | 0.080 | 3 | 138403939 | 3 prime UTR variant | A/G | snv | 4.0E-02 | 1 |