Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1253810269 | 0.882 | 0.080 | 1 | 26696971 | missense variant | G/A | snv | 7.0E-06 | 3 | ||
rs12564445 | 0.851 | 0.040 | 1 | 201376359 | intron variant | G/A | snv | 0.27 | 5 | ||
rs12567209 | 0.807 | 0.080 | 1 | 162066689 | upstream gene variant | G/A | snv | 8.6E-02 | 6 | ||
rs1258130495 | 0.882 | 0.040 | 4 | 147485727 | missense variant | G/A | snv | 3 | |||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs13003941 | 0.925 | 0.040 | 2 | 211378978 | 3 prime UTR variant | G/C;T | snv | 0.26 | 2 | ||
rs1303946678 | 0.925 | 0.040 | 22 | 42126851 | missense variant | C/G | snv | 3 | |||
rs13058338 | 1.000 | 0.040 | 22 | 37236730 | intron variant | T/A;G | snv | 4 | |||
rs1320702652 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 11 | ||
rs1337916669 | 0.925 | 0.040 | 6 | 26092879 | missense variant | G/T | snv | 2 | |||
rs1344172059 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 12 | ||
rs140226130 | 0.790 | 0.200 | 18 | 33336845 | intron variant | -/CTTTTTGCT | delins | 7.8E-02 | 8 | ||
rs141322087 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 13 | |
rs1429117513 | 0.925 | 0.040 | 12 | 6775316 | synonymous variant | T/C | snv | 4.0E-06 | 2 | ||
rs150821281 | 0.827 | 0.080 | 12 | 32878461 | missense variant | G/A | snv | 2.3E-03 | 2.5E-03 | 7 | |
rs1535 | 0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 | 24 | ||
rs1544223 | 1.000 | 0.040 | 1 | 111503935 | intron variant | C/T | snv | 0.72 | 1 | ||
rs1553265736 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 4 | |||
rs1559279177 | 0.851 | 0.160 | 1 | 146018661 | frameshift variant | G/- | del | 5 | |||
rs1595064 | 0.925 | 0.040 | 2 | 211378020 | 3 prime UTR variant | G/A;C | snv | 2 | |||
rs1595065 | 0.925 | 0.040 | 2 | 211377916 | 3 prime UTR variant | G/A | snv | 0.73 | 2 | ||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1739843 | 0.882 | 0.040 | 1 | 16016759 | intron variant | T/C | snv | 0.62 | 4 | ||
rs17740607 | 0.925 | 0.160 | 15 | 50263347 | missense variant | G/A;C | snv | 8.5E-02; 4.0E-06 | 2 | ||
rs17859821 | 1.000 | 0.040 | 16 | 55478141 | intron variant | G/A;C | snv | 0.11 | 2 |