Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs56793579 | 0.851 | 0.240 | 1 | 156115102 | missense variant | C/G;T | snv | 5 | |||
rs3787429 | 1.000 | 0.040 | 20 | 62216348 | missense variant | C/G;T | snv | 4.5E-06; 0.45 | 1 | ||
rs548787835 | 1.000 | 0.040 | 5 | 179823911 | missense variant | C/G;T | snv | 1.2E-05; 1.6E-05 | 1 | ||
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs2070744 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 54 | ||
rs1800888 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 23 | |
rs1815739 | 0.763 | 0.240 | 11 | 66560624 | stop gained | C/T | snv | 0.37 | 17 | ||
rs141322087 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 13 | |
rs1344172059 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 12 | ||
rs37369 | 0.807 | 0.120 | 5 | 35037010 | missense variant | C/T | snv | 0.21 | 0.25 | 9 | |
rs370579379 | 0.827 | 0.160 | 10 | 93594018 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 6 | |
rs73956431 | 0.827 | 0.120 | 18 | 31699870 | regulatory region variant | C/T | snv | 8.4E-02 | 6 | ||
rs2149954 | 0.882 | 0.080 | 5 | 158393594 | intron variant | C/T | snv | 0.37 | 5 | ||
rs535039125 | 0.851 | 0.040 | 19 | 41004380 | missense variant | C/T | snv | 1.1E-04 | 1.3E-04 | 5 | |
rs567798234 | 0.851 | 0.120 | 1 | 109625326 | missense variant | C/T | snv | 4.1E-06 | 7.0E-06 | 5 | |
rs1249958 | 0.925 | 0.040 | 12 | 54582053 | missense variant | C/T | snv | 2.7E-02 | 3 | ||
rs34376731 | 0.925 | 0.040 | 12 | 54581014 | missense variant | C/T | snv | 4.6E-03 | 1.9E-02 | 2 | |
rs3748960 | 0.925 | 0.040 | 2 | 211383109 | 3 prime UTR variant | C/T | snv | 0.96 | 2 | ||
rs6684209 | 1.000 | 0.040 | 1 | 115707991 | intron variant | C/T | snv | 0.17 | 2 | ||
rs9909004 | 0.925 | 0.040 | 17 | 66310015 | intron variant | C/T | snv | 0.59 | 2 | ||
rs1544223 | 1.000 | 0.040 | 1 | 111503935 | intron variant | C/T | snv | 0.72 | 1 | ||
rs3754860 | 1.000 | 0.040 | 2 | 25170385 | upstream gene variant | C/T | snv | 0.22 | 1 | ||
rs1559279177 | 0.851 | 0.160 | 1 | 146018661 | frameshift variant | G/- | del | 5 | |||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 |