Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121917739 | 0.882 | 0.080 | 15 | 40718818 | missense variant | G/A | snv | 3.7E-04 | 1.7E-03 | 4 | |
rs1285136498 | 0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv | 13 | |||
rs17822931 | 0.827 | 0.080 | 16 | 48224287 | missense variant | C/G;T | snv | 4.0E-06; 0.22 | 0.13 | 7 | |
rs188957694 | 0.882 | 0.080 | 6 | 151944218 | missense variant | G/A;C | snv | 4.0E-05 | 4.9E-05 | 6 | |
rs762292600 | 0.925 | 0.080 | 6 | 151944316 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 7 | |
rs765189442 | 0.925 | 0.080 | 2 | 168995422 | missense variant | T/C | snv | 8.1E-06 | 4 | ||
rs1989969 | 0.827 | 0.120 | 12 | 47884227 | intron variant | A/C;G;T | snv | 0.60 | 8 | ||
rs3136797 | 0.827 | 0.120 | 8 | 42369287 | missense variant | C/G | snv | 1.1E-02 | 1.1E-02 | 10 | |
rs6504950 | 0.807 | 0.120 | 17 | 54979110 | intron variant | G/A | snv | 0.29 | 7 | ||
rs779196500 | 0.882 | 0.120 | 17 | 7675187 | missense variant | G/A | snv | 4.0E-06 | 5 | ||
rs11283943 | 0.882 | 0.160 | 5 | 113071088 | splice donor variant | -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT | delins | 4 | |||
rs132793 | 0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv | 7 | |||
rs763193414 | 0.827 | 0.160 | 17 | 39707034 | missense variant | G/A | snv | 3.7E-05 | 4.9E-05 | 7 | |
rs7726159 | 0.790 | 0.160 | 5 | 1282204 | intron variant | C/A | snv | 0.29 | 10 | ||
rs2229992 | 0.827 | 0.200 | 5 | 112827157 | stop gained | T/C;G | snv | 0.58 | 0.47 | 6 | |
rs4987188 | 0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 | 11 | ||
rs62625307 | 0.827 | 0.200 | 17 | 43091933 | stop gained | G/A | snv | 4.0E-06 | 8 | ||
rs74315364 | 0.732 | 0.200 | 1 | 182586014 | stop gained | C/A | snv | 3.6E-03; 4.0E-06 | 3.3E-03 | 13 | |
rs1190999960 | 0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv | 9 | |||
rs1250394819 | 0.807 | 0.240 | 5 | 115616325 | missense variant | C/T | snv | 4.0E-06 | 9 | ||
rs16999593 | 0.742 | 0.240 | 19 | 10180505 | missense variant | T/C | snv | 2.4E-02 | 9.6E-03 | 14 | |
rs568887534 | 0.807 | 0.240 | 8 | 30183156 | missense variant | A/G | snv | 4.0E-06 | 9 | ||
rs1047840 | 0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 | 19 | |
rs13010627 | 0.807 | 0.280 | 2 | 201209375 | missense variant | G/A | snv | 4.2E-02 | 4.3E-02 | 10 | |
rs2046210 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 21 |