Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2293479 | 1.000 | 0.080 | 7 | 100106335 | intron variant | T/C;G | snv | 0.29; 4.0E-06 | 1 | ||
rs4727449 | 1.000 | 0.080 | 7 | 100188127 | intron variant | C/T | snv | 0.11 | 1 | ||
rs866500 | 1.000 | 0.080 | 7 | 100242838 | intron variant | A/G;T | snv | 1 | |||
rs858502 | 1.000 | 0.080 | 7 | 100245730 | intron variant | T/C | snv | 0.50 | 1 | ||
rs35305377 | 1.000 | 0.080 | 7 | 100341332 | intron variant | G/A | snv | 0.56 | 1 | ||
rs2289506 | 1.000 | 0.080 | 3 | 100346058 | non coding transcript exon variant | C/T | snv | 0.24 | 1 | ||
rs1859788 | 0.925 | 0.080 | 7 | 100374211 | missense variant | A/C;G | snv | 4.0E-06; 0.65 | 3 | ||
rs374019283 | 0.882 | 0.200 | 3 | 10039759 | synonymous variant | T/C | snv | 4.0E-05 | 2.2E-04 | 5 | |
rs1476679 | 0.925 | 0.080 | 7 | 100406823 | intron variant | C/A;T | snv | 4.0E-06; 0.74 | 2 | ||
rs4807399 | 1.000 | 0.080 | 19 | 1004711 | missense variant | C/T | snv | 0.44 | 0.46 | 1 | |
rs865862446 | 0.882 | 0.200 | 3 | 10049416 | missense variant | G/A | snv | 5 | |||
rs2240158 | 0.925 | 0.120 | 19 | 1005231 | missense variant | C/T | snv | 0.36 | 0.41 | 2 | |
rs117969561 | 1.000 | 0.080 | 13 | 100558935 | intron variant | C/T | snv | 2.5E-02 | 1 | ||
rs2734897 | 1.000 | 0.080 | 7 | 100561944 | intron variant | A/G | snv | 0.74 | 1 | ||
rs714873 | 0.882 | 0.200 | 4 | 10057994 | upstream gene variant | G/A | snv | 0.74 | 4 | ||
rs5966709 | 1.000 | 0.080 | X | 100589509 | intron variant | G/T | snv | 0.40 | 1 | ||
rs6834555 | 0.882 | 0.200 | 4 | 10060702 | regulatory region variant | G/A | snv | 0.74 | 4 | ||
rs747604554 | 1.000 | 0.080 | 3 | 10065441 | frameshift variant | TT/- | delins | 4.0E-06 | 1 | ||
rs2970989 | 1.000 | 0.080 | 2 | 100697607 | intergenic variant | T/G | snv | 0.18 | 1 | ||
rs1513625 | 1.000 | 0.080 | 2 | 100698011 | intergenic variant | G/A;T | snv | 1 | |||
rs1399439 | 1.000 | 0.080 | 12 | 100827461 | intron variant | A/G | snv | 3.7E-02 | 1 | ||
rs751236171 | 1.000 | 0.080 | 7 | 100891280 | missense variant | C/T | snv | 1.7E-05 | 1 | ||
rs964917 | 1.000 | 0.080 | 8 | 100925227 | intron variant | T/C | snv | 0.55 | 1 | ||
rs983583 | 0.925 | 0.080 | 8 | 100949682 | intron variant | T/C | snv | 0.66 | 2 | ||
rs2227631 | 0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 | 13 |