Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs7412 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 47 | |
rs11591147 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 28 | ||
rs579459 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 28 | ||
rs599839 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 27 | |||
rs693 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 24 | |
rs635634 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 22 | |||
rs1169288 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 21 | ||
rs505151 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 18 | |
rs174546 | 0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 | 17 | ||
rs11206510 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 16 | |||
rs1122608 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 16 | ||
rs17321515 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 16 | ||
rs688 | 0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 | 16 | |
rs1042034 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 15 | |
rs2954029 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 14 | ||
rs673548 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 14 | |||
rs174601 | 0.925 | 0.080 | 11 | 61855668 | non coding transcript exon variant | C/A;T | snv | 12 | |||
rs676210 | 0.925 | 0.120 | 2 | 21008652 | missense variant | G/A;T | snv | 0.29 | 12 | ||
rs1042031 | 0.790 | 0.200 | 2 | 21002881 | stop gained | C/A;T | snv | 8.0E-06; 0.15 | 11 | ||
rs2650000 | 0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 | 10 | ||
rs6882076 | 0.827 | 0.160 | 5 | 156963286 | upstream gene variant | T/C | snv | 0.56 | 9 | ||
rs16996148 | 0.882 | 0.120 | 19 | 19547663 | downstream gene variant | G/T | snv | 0.10 | 8 | ||
rs5925 | 0.851 | 0.200 | 19 | 11120205 | synonymous variant | T/C | snv | 0.42 | 0.37 | 7 |