Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs786204108 | 1.000 | 0.080 | 7 | 100626866 | missense variant | C/G;T | snv | 1.3E-05 | 1 | ||
rs1051249273 | 1.000 | 0.080 | 7 | 100626885 | stop gained | G/A;T | snv | 4.8E-05 | 1 | ||
rs1220336558 | 1.000 | 0.080 | 7 | 100627389 | stop gained | G/A | snv | 5.9E-06 | 1 | ||
rs1562838535 | 1.000 | 0.080 | 7 | 100627598 | frameshift variant | G/- | delins | 1 | |||
rs750609759 | 1.000 | 0.080 | 7 | 100627822 | splice acceptor variant | T/C | snv | 1.6E-05 | 7.0E-06 | 1 | |
rs772104483 | 1.000 | 0.080 | 7 | 100628288 | missense variant | C/A | snv | 8.0E-06 | 1 | ||
rs773050231 | 1.000 | 0.080 | 7 | 100628299 | frameshift variant | C/- | delins | 1.1E-04 | 1 | ||
rs80338881 | 0.925 | 0.080 | 7 | 100632099 | stop gained | G/A | snv | 2 | |||
rs80338880 | 0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 | 12 | ||
rs80338879 | 0.882 | 0.080 | 7 | 100633515 | missense variant | A/T | snv | 8.3E-06 | 3 | ||
rs1426704853 | 1.000 | 0.080 | 7 | 100641009 | frameshift variant | G/- | delins | 1 | |||
rs200249435 | 0.827 | 0.200 | 7 | 100641071 | missense variant | G/A;C | snv | 4.2E-06; 8.3E-06 | 5 | ||
rs236918 | 0.776 | 0.160 | 11 | 117220893 | non coding transcript exon variant | G/A;C | snv | 10 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs3811647 | 0.807 | 0.120 | 3 | 133765185 | intron variant | G/A | snv | 0.31 | 15 | ||
rs121434374 | 0.851 | 0.080 | 1 | 146018395 | stop gained | G/C;T | snv | 1.2E-05; 4.0E-06 | 4 | ||
rs74315323 | 0.882 | 0.080 | 1 | 146018399 | missense variant | C/A | snv | 1.7E-04 | 2.7E-04 | 4 | |
rs143496559 | 0.925 | 0.080 | 1 | 146018454 | missense variant | C/T | snv | 2.9E-04 | 5.2E-04 | 2 | |
rs781959255 | 0.925 | 0.080 | 1 | 146019321 | missense variant | C/T | snv | 8.1E-06 | 2 | ||
rs763569821 | 0.851 | 0.160 | 1 | 155188197 | missense variant | T/C | snv | 1.2E-05 | 4 | ||
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs387907377 | 0.882 | 0.080 | 2 | 189565504 | missense variant | C/T | snv | 8.0E-06 | 3 | ||
rs1168921011 | 1.000 | 0.080 | 1 | 203171152 | missense variant | C/A;T | snv | 1 |