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 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs1800730 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 32 | |
rs35201683 | 0.732 | 0.360 | 6 | 26094205 | stop gained | C/A;T | snv | 1.4E-03 | 12 | ||
rs780246573 | 0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 12 | ||
rs80338880 | 0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 | 12 | ||
rs200249435 | 0.827 | 0.200 | 7 | 100641071 | missense variant | G/A;C | snv | 4.2E-06; 8.3E-06 | 5 | ||
rs121918057 | 0.882 | 0.160 | 1 | 45014803 | missense variant | G/A;T | snv | 1.2E-05; 8.0E-06 | 4 | ||
rs121918059 | 0.882 | 0.160 | 1 | 45014835 | missense variant | C/G;T | snv | 8.0E-06 | 3 | ||
rs121918061 | 0.882 | 0.160 | 1 | 45014996 | missense variant | A/G;T | snv | 8.0E-06 | 3 | ||
rs104894696 | 0.925 | 0.160 | 19 | 35284999 | missense variant | G/A | snv | 1.7E-03 | 1.9E-03 | 2 | |
rs121918060 | 0.925 | 0.160 | 1 | 45013187 | missense variant | C/T | snv | 2 | |||
rs121918058 | 0.925 | 0.160 | 1 | 45013933 | missense variant | G/A | snv | 2 | |||
rs145195562 | 0.925 | 0.160 | 1 | 45014071 | splice donor variant | G/C | snv | 2.8E-05; 4.0E-06 | 2 | ||
rs769378741 | 0.925 | 0.160 | 1 | 45013140 | missense variant | T/A;C | snv | 8.0E-06 | 2 | ||
rs776907084 | 0.925 | 0.160 | 1 | 45013317 | missense variant | C/G | snv | 4.0E-06 | 1.4E-05 | 2 | |
rs17838832 | 1.000 | 0.160 | 3 | 149222146 | upstream gene variant | A/G | snv | 6.9E-02 | 1 | ||
rs767080313 | 1.000 | 0.160 | 19 | 35285035 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs397514764 | 1.000 | 0.160 | 1 | 45012271 | frameshift variant | AGCGAATGGG/- | del | 1 | |||
rs764268015 | 1.000 | 0.160 | 1 | 45012960 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs781933275 | 1.000 | 0.160 | 1 | 146019620 | missense variant | C/A | snv | 8.1E-06 | 1 | ||
rs899673013 | 1.000 | 0.160 | 6 | 26091530 | missense variant | A/G | snv | 1 | |||
rs13015236 | 1.000 | 0.160 | 2 | 189581210 | intron variant | C/T | snv | 0.50 | 1 | ||
rs116233118 | 1.000 | 0.160 | 1 | 45015346 | missense variant | G/A;T | snv | 1.3E-03 | 1 | ||
rs1182234844 | 1.000 | 0.160 | 1 | 45013742 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 |