Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs549467183 | 0.925 | 0.080 | 2 | 47475228 | missense variant | G/A | snv | 1.3E-04 | 3.5E-05 | 2 | |
rs1064793981 | 1.000 | 0.040 | 2 | 47475030 | missense variant | G/A | snv | 1 | |||
rs1295445617 | 1.000 | 0.040 | 2 | 47403398 | synonymous variant | G/A;C;T | snv | 4.5E-06; 4.5E-06 | 1 | ||
rs3732183 | 1.000 | 0.040 | 2 | 47466820 | intron variant | G/A;T | snv | 0.34; 4.0E-06 | 0.40 | 1 | |
rs6743068 | 1.000 | 0.040 | 2 | 201289197 | intron variant | A/G | snv | 0.72 | 1 | ||
rs774121564 | 1.000 | 0.040 | 2 | 275197 | missense variant | C/G | snv | 4.1E-06 | 1 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 71 | ||
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs121913273 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 44 | |||
rs752742313 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 36 | ||
rs1800734 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 30 | ||
rs876658657 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 25 | ||
rs577715207 | 0.827 | 0.160 | 3 | 189886413 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 | 8 | |
rs2229090 | 0.827 | 0.160 | 3 | 14145845 | 3 prime UTR variant | G/C | snv | 0.25 | 0.22 | 6 | |
rs181696 | 0.925 | 0.080 | 3 | 155548315 | intron variant | T/C | snv | 0.55 | 3 | ||
rs2239612 | 1.000 | 0.040 | 3 | 187075454 | intron variant | G/A | snv | 0.17 | 2 | ||
rs1064793400 | 1.000 | 0.040 | 3 | 37048550 | missense variant | G/A | snv | 1 | |||
rs11707807 | 1.000 | 0.040 | 3 | 188370473 | intron variant | A/G | snv | 0.36 | 1 | ||
rs1607237 | 1.000 | 0.040 | 3 | 179232509 | intron variant | C/T | snv | 0.68 | 1 | ||
rs62246017 | 1.000 | 0.040 | 3 | 71433933 | intron variant | G/A;C | snv | 1 | |||
rs6791479 | 1.000 | 0.040 | 3 | 189487243 | intergenic variant | T/A | snv | 0.48 | 1 | ||
rs764496629 | 1.000 | 0.040 | 3 | 12590859 | missense variant | C/T | snv | 1 | |||
rs779759678 | 1.000 | 0.040 | 3 | 36993556 | missense variant | C/G | snv | 4.0E-06 | 3.5E-05 | 1 | |
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 |