Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs370588269 | 8 | 11756964 | missense variant | G/A | snv | 2.4E-05 | 7.0E-05 | 1 | |||
rs146243018 | 18 | 22200698 | missense variant | C/G | snv | 2.5E-04 | 1.7E-04 | 1 | |||
rs4646156 | X | 15578920 | intron variant | A/T | snv | 2 | |||||
rs1064794259 | 1.000 | 0.080 | 19 | 11113615 | missense variant | C/T | snv | 2 | |||
rs770696696 | 1.000 | 0.080 | 19 | 11113738 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs199473620 | 1.000 | 0.080 | 3 | 38554372 | stop gained | C/A;T | snv | 2 | |||
rs1555514089 | 0.925 | 0.200 | 16 | 16187213 | splice acceptor variant | T/C | snv | 4 | |||
rs2856597 | 0.925 | 0.200 | 16 | 16219935 | missense variant | C/T | snv | 3.0E-04 | 5 | ||
rs72653784 | 1.000 | 0.160 | 16 | 16182562 | missense variant | C/A;T | snv | 2.0E-05; 4.0E-06 | 5 | ||
rs1555520991 | 0.925 | 0.200 | 16 | 16212248 | splice acceptor variant | T/C | snv | 5 | |||
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 | |||
rs63750428 | 0.925 | 0.200 | 16 | 16154767 | missense variant | G/A;T | snv | 4.9E-05 | 6 | ||
rs72653769 | 1.000 | 0.160 | 16 | 16190315 | missense variant | A/T | snv | 8.0E-06 | 6 | ||
rs72653777 | 1.000 | 0.160 | 16 | 16187193 | missense variant | G/A | snv | 2.8E-05 | 4.2E-05 | 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 | |||
rs749125777 | 1.000 | 0.160 | 16 | 16173287 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 6 | ||
rs769437554 | 0.925 | 0.200 | 16 | 16165784 | inframe deletion | AAG/- | delins | 1.2E-05 | 6 | ||
rs776513864 | 0.925 | 0.200 | 16 | 16178920 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 6 | ||
rs965791272 | 1.000 | 0.160 | 16 | 16155041 | non coding transcript exon variant | G/A;C;T | snv | 6 | |||
rs1481200467 | 0.925 | 0.200 | 16 | 16173393 | stop gained | G/C;T | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs63749794 | 0.925 | 0.160 | 16 | 16163159 | missense variant | G/A | snv | 9.2E-05 | 4.2E-05 | 7 | |
rs63751111 | 1.000 | 0.160 | 16 | 16154873 | missense variant | C/G;T | snv | 8.1E-06 | 7 | ||
rs72653761 | 0.925 | 0.200 | 16 | 16202033 | missense variant | G/A | snv | 5.2E-05 | 6.3E-05 | 7 |