Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10190751 | 0.882 | 0.120 | 2 | 201141373 | splice acceptor variant | G/A | snv | 0.18 | 0.26 | 4 | |
rs10484561 | 0.827 | 0.160 | 6 | 32697643 | intergenic variant | T/G | snv | 0.13 | 6 | ||
rs1056503 | 0.851 | 0.200 | 5 | 83353158 | synonymous variant | T/A;G | snv | 4.0E-06; 0.23 | 4 | ||
rs112445441 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 32 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs1159838942 | 1.000 | 0.120 | 11 | 36574757 | missense variant | C/A;T | snv | 1 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs12355840 | 0.827 | 0.240 | 10 | 133247608 | non coding transcript exon variant | C/G;T | snv | 1.1E-04; 0.80 | 5 | ||
rs12711521 | 0.807 | 0.240 | 1 | 11030859 | missense variant | C/A | snv | 0.74 | 0.63 | 7 | |
rs12717 | 0.925 | 0.160 | 6 | 170553212 | missense variant | G/C | snv | 0.42 | 0.38 | 2 | |
rs12917 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 45 | |
rs1308699981 | 0.807 | 0.440 | 1 | 161543085 | missense variant | G/A | snv | 4.0E-06 | 7 | ||
rs13198610 | 1.000 | 0.120 | 6 | 32457895 | downstream gene variant | G/T | snv | 0.13 | 1 | ||
rs13254990 | 0.882 | 0.120 | 8 | 128064205 | intron variant | C/T | snv | 0.24 | 4 | ||
rs1346044 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 23 | |
rs1392080411 | 0.827 | 0.160 | 19 | 16325934 | missense variant | C/T | snv | 7.0E-06 | 5 | ||
rs144848 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 29 | |
rs1493202 | 1.000 | 0.120 | 8 | 70993352 | intron variant | T/G | snv | 0.41 | 1 | ||
rs1494555 | 0.790 | 0.120 | 5 | 35871088 | missense variant | G/A | snv | 0.64 | 0.72 | 8 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs172378 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 11 | |
rs17749561 | 0.925 | 0.120 | 18 | 63115978 | intergenic variant | G/A | snv | 5.9E-02 | 2 | ||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs1805329 | 0.732 | 0.400 | 9 | 107322047 | missense variant | C/T | snv | 0.20 | 0.16 | 15 |