Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs932347 | 1.000 | 0.040 | 1 | 209882285 | intergenic variant | C/T | snv | 0.15 | 1 | ||
rs958617 | 1.000 | 0.040 | 4 | 77684215 | intergenic variant | A/G | snv | 0.56 | 1 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs2542670 | 1.000 | 0.040 | 17 | 37294135 | intron variant | A/G;T | snv | 1 | |||
rs1042713 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 63 | |
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs2115819 | 1.000 | 0.040 | 10 | 45405641 | intron variant | A/G | snv | 0.42 | 1 | ||
rs7111432 | 1.000 | 0.040 | 11 | 429659 | splice region variant | C/G;T | snv | 4.0E-06; 0.56 | 1 | ||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs1017281 | 1.000 | 0.040 | 8 | 130234967 | intron variant | G/A | snv | 0.37 | 1 | ||
rs10956514 | 1.000 | 0.040 | 8 | 130240512 | intron variant | A/G | snv | 0.37 | 1 | ||
rs11774633 | 1.000 | 0.040 | 8 | 130177997 | intron variant | C/T | snv | 0.61 | 1 | ||
rs4236749 | 1.000 | 0.040 | 8 | 130052907 | 3 prime UTR variant | C/T | snv | 0.16 | 1 | ||
rs4733781 | 1.000 | 0.040 | 8 | 130284521 | intron variant | A/C | snv | 0.29 | 1 | ||
rs3117582 | 0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 | 14 | ||
rs1925714 | 1.000 | 0.040 | 1 | 228515588 | upstream gene variant | A/G | snv | 0.81 | 1 | ||
rs9268492 | 0.882 | 0.200 | 6 | 32407503 | non coding transcript exon variant | C/G | snv | 0.31 | 3 | ||
rs9268494 | 0.882 | 0.200 | 6 | 32407575 | non coding transcript exon variant | A/C;T | snv | 0.32 | 3 | ||
rs1131498 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 13 | |
rs451390 | 1.000 | 0.040 | 21 | 41923401 | intron variant | G/C | snv | 7.5E-02 | 1 | ||
rs6509365 | 0.925 | 0.160 | 19 | 48240212 | intron variant | A/G | snv | 0.34 | 2 | ||
rs4586 | 0.790 | 0.280 | 17 | 34256250 | synonymous variant | T/C | snv | 0.44 | 0.48 | 8 |