Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1219605554 | 1.000 | 0.040 | 1 | 247425505 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs550622769 | 1.000 | 0.040 | 12 | 6329578 | missense variant | G/A;C | snv | 4.5E-06; 9.0E-06 | 1 | ||
rs11466024 | 0.925 | 0.080 | 16 | 3249468 | missense variant | C/A;T | snv | 1.6E-05; 1.3E-02 | 2 | ||
rs224224 | 0.925 | 0.080 | 16 | 3254654 | synonymous variant | T/A;C | snv | 1.7E-04; 0.44 | 2 | ||
rs8193038 | 0.925 | 0.080 | 6 | 52186584 | intron variant | A/G | snv | 2.2E-02 | 2 | ||
rs1946519 | 0.851 | 0.120 | 11 | 112164784 | intron variant | A/C | snv | 0.60 | 4 | ||
rs1372834938 | 0.763 | 0.280 | 2 | 8812465 | missense variant | G/C | snv | 4.2E-06 | 12 | ||
rs3748067 | 0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 21 | ||
rs11466023 | 0.827 | 0.320 | 16 | 3249586 | missense variant | G/A;T | snv | 1.5E-02; 4.0E-05 | 6 | ||
rs4711998 | 0.708 | 0.360 | 6 | 52185555 | upstream gene variant | A/G | snv | 0.64 | 16 | ||
rs1131498 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 13 | |
rs17281995 | 0.763 | 0.360 | 3 | 122120794 | 3 prime UTR variant | G/A;C | snv | 11 | |||
rs1129055 | 0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 | 15 | |
rs224222 | 0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 | 15 | |
rs3819025 | 0.752 | 0.480 | 6 | 52186476 | intron variant | G/A | snv | 0.13 | 8.5E-02 | 11 | |
rs28940580 | 0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 | 17 | ||
rs3819024 | 0.701 | 0.560 | 6 | 52185988 | upstream gene variant | A/G | snv | 0.34 | 17 | ||
rs1458766475 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 41 | ||
rs5742909 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 40 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs3743930 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 43 | ||
rs2243250 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 61 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 |