Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10757278 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 44 | ||
rs4977574 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 26 | |||
rs1611115 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 16 | ||
rs281432 | 0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 | 12 | ||
rs10911021 | 0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 | 11 | ||
rs66492417 | 0.882 | 0.240 | 16 | 16178909 | stop gained | G/T | snv | 10 | |||
rs63749796 | 0.925 | 0.200 | 16 | 16159505 | missense variant | C/G | snv | 9 | |||
rs1555513085 | 0.925 | 0.200 | 16 | 16182486 | frameshift variant | TCTC/- | delins | 8 | |||
rs72664227 | 0.925 | 0.200 | 16 | 16182875 | frameshift variant | C/-;CC | delins | 7.0E-06 | 7 | ||
rs7667298 | 0.827 | 0.120 | 4 | 55125564 | 5 prime UTR variant | T/C | snv | 0.48 | 7 | ||
rs1555512158 | 0.925 | 0.200 | 16 | 16177554 | missense variant | C/G | snv | 6 | |||
rs1555514467 | 1.000 | 0.160 | 16 | 16188897 | frameshift variant | AG/- | delins | 6 | |||
rs72664203 | 1.000 | 0.160 | 16 | 16219948 | splice acceptor variant | C/G | snv | 6 | |||
rs72664239 | 0.925 | 0.200 | 16 | 16150646 | frameshift variant | C/- | delins | 6 | |||
rs965791272 | 1.000 | 0.160 | 16 | 16155041 | non coding transcript exon variant | G/A;C;T | snv | 6 | |||
rs1555520991 | 0.925 | 0.200 | 16 | 16212248 | splice acceptor variant | T/C | snv | 5 | |||
rs2856597 | 0.925 | 0.200 | 16 | 16219935 | missense variant | C/T | snv | 3.0E-04 | 5 | ||
rs1555514089 | 0.925 | 0.200 | 16 | 16187213 | splice acceptor variant | T/C | snv | 4 | |||
rs1064794259 | 1.000 | 0.080 | 19 | 11113615 | missense variant | C/T | snv | 2 | |||
rs199473620 | 1.000 | 0.080 | 3 | 38554372 | stop gained | C/A;T | snv | 2 | |||
rs4646156 | X | 15578920 | intron variant | A/T | snv | 2 | |||||
rs1481200467 | 0.925 | 0.200 | 16 | 16173393 | stop gained | G/C;T | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs770696696 | 1.000 | 0.080 | 19 | 11113738 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs72650700 | 0.827 | 0.240 | 16 | 16190247 | stop gained | G/A;T | snv | 4.4E-05; 4.0E-06 | 12 | ||
rs72653784 | 1.000 | 0.160 | 16 | 16182562 | missense variant | C/A;T | snv | 2.0E-05; 4.0E-06 | 5 |