Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6971 | 0.742 | 0.200 | 22 | 43162920 | missense variant | A/G | snv | 0.76 | 0.75 | 11 | |
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs144551722 | 0.851 | 0.040 | X | 43632629 | intergenic variant | G/A | snv | 0.13 | 4 | ||
rs1005230 | 0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 | 5 | ||
rs833061 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 42 | |||
rs2010963 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 82 | ||
rs3024994 | 0.776 | 0.120 | 6 | 43775770 | non coding transcript exon variant | C/T | snv | 3.8E-02 | 8 | ||
rs375391381 | 0.851 | 0.040 | 15 | 43883735 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 4 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs3788266 | 0.732 | 0.160 | 21 | 46606442 | upstream gene variant | G/A | snv | 0.50 | 12 | ||
rs63750949 | 0.827 | 0.080 | 2 | 47806213 | missense variant | C/A;T | snv | 6 | |||
rs755794544 | 0.851 | 0.040 | 7 | 512435 | missense variant | T/C | snv | 4.0E-06 | 4 | ||
rs76151636 | 0.776 | 0.280 | 13 | 51944145 | missense variant | G/A;T | snv | 4.0E-06; 9.2E-04 | 10 | ||
rs2235544 | 0.742 | 0.240 | 1 | 53909897 | intron variant | C/A;T | snv | 0.53; 4.0E-06 | 14 | ||
rs4644 | 0.732 | 0.320 | 14 | 55138217 | missense variant | C/A;G | snv | 0.35 | 14 | ||
rs4652 | 0.752 | 0.200 | 14 | 55138318 | missense variant | A/C | snv | 4.1E-06; 0.45 | 0.57 | 12 | |
rs149840192 | 0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv | 7 | |||
rs373191257 | 0.827 | 0.080 | 16 | 56363027 | missense variant | T/A | snv | 1.6E-05 | 7.0E-06 | 5 | |
rs2440472 | 0.827 | 0.080 | 16 | 56402912 | intron variant | A/G | snv | 0.61 | 5 | ||
rs753152604 | 0.827 | 0.040 | 12 | 57751680 | missense variant | C/A | snv | 7 | |||
rs6010620 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 21 | |||
rs2297440 | 0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 | 10 | ||
rs660118 | 0.807 | 0.080 | 11 | 65967703 | missense variant | G/C | snv | 0.46 | 0.36 | 6 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 |