Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs573455 | 11 | 117397168 | missense variant | A/C;G | snv | 0.47 | 2 | ||||
rs4791641 | 17 | 8257831 | missense variant | C/T | snv | 0.43 | 0.41 | 4 | |||
rs7464181 | 8 | 60266015 | missense variant | T/C;G | snv | 0.42; 4.0E-06 | 1 | ||||
rs1865760 | 0.925 | 0.120 | 6 | 25916751 | synonymous variant | C/T | snv | 0.42 | 0.34 | 1 | |
rs3752419 | 0.882 | 0.160 | 6 | 26027205 | synonymous variant | G/A;C;T | snv | 0.41; 4.0E-06 | 1 | ||
rs1639122 | 12 | 6601981 | missense variant | C/A;G | snv | 0.40 | 1 | ||||
rs7819099 | 8 | 143918694 | synonymous variant | A/G;T | snv | 0.40; 4.1E-05 | 1 | ||||
rs2273113 | 1 | 16960919 | synonymous variant | T/C;G | snv | 0.37; 1.1E-05 | 1 | ||||
rs174533 | 0.763 | 0.160 | 11 | 61781553 | intron variant | G/A | snv | 0.37 | 0.29 | 17 | |
rs3811444 | 1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 | 12 | |||
rs2275558 | 0.882 | 0.200 | 1 | 164559883 | missense variant | G/A | snv | 0.30 | 0.19 | 1 | |
rs11066188 | 0.851 | 0.320 | 12 | 112172910 | intron variant | G/A;C | snv | 0.30; 4.1E-06 | 3 | ||
rs1874344 | 7 | 98244682 | synonymous variant | G/A | snv | 0.29 | 0.26 | 1 | |||
rs9859077 | 3 | 101417558 | intron variant | G/A;C | snv | 0.28 | 2 | ||||
rs2072671 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 2 | |
rs2246434 | 1 | 158648665 | intron variant | G/A | snv | 0.26 | 0.22 | 1 | |||
rs3813803 | 0.925 | 0.080 | 1 | 27955781 | missense variant | T/C | snv | 0.25 | 0.23 | 3 | |
rs2748427 | 17 | 78125783 | missense variant | A/G | snv | 0.24 | 0.29 | 2 | |||
rs347519 | 1.000 | 0.080 | 19 | 43769364 | synonymous variant | T/C | snv | 0.24 | 0.31 | 1 | |
rs1987070 | 2 | 46010307 | intron variant | C/A | snv | 0.22 | 0.22 | 1 | |||
rs2067079 | 0.807 | 0.240 | 1 | 173866073 | non coding transcript exon variant | C/T | snv | 0.22 | 0.18 | 1 | |
rs60237566 | 2 | 230877996 | intron variant | T/G | snv | 0.21 | 0.25 | 2 | |||
rs4988344 | 0.882 | 0.120 | 17 | 61847251 | intron variant | G/C | snv | 0.20 | 0.15 | 1 | |
rs3741651 | 12 | 53383387 | synonymous variant | A/G | snv | 0.17 | 0.18 | 1 | |||
rs3087595 | 15 | 82095521 | non coding transcript exon variant | G/A;C;T | snv | 7.8E-06; 0.17 | 1 |