Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554162524 | 0.882 | 0.160 | 6 | 79925034 | splice acceptor variant | T/C | snv | 4 | |||
rs3814055 | 0.925 | 0.040 | 3 | 119781188 | 5 prime UTR variant | C/T | snv | 0.35 | 4 | ||
rs6667202 | 0.882 | 0.120 | 1 | 206783747 | intron variant | C/A;T | snv | 4 | |||
rs786205155 | 0.882 | 0.120 | 12 | 11884481 | missense variant | T/C | snv | 4 | |||
rs11789898 | 9 | 134060541 | intron variant | G/T | snv | 0.14 | 3 | ||||
rs121908064 | 1.000 | 0.080 | 17 | 4933367 | missense variant | A/G | snv | 3 | |||
rs132630273 | 0.925 | 0.120 | X | 48684284 | missense variant | C/T | snv | 3 | |||
rs1523127 | 0.925 | 0.040 | 3 | 119782192 | 5 prime UTR variant | C/A | snv | 0.48 | 3 | ||
rs2071346 | 0.925 | 0.160 | 8 | 127736777 | intron variant | G/T | snv | 7.1E-02 | 3 | ||
rs4737420 | 0.925 | 0.080 | 8 | 55895622 | non coding transcript exon variant | T/C | snv | 0.38 | 3 | ||
rs724159945 | 1.000 | 12 | 11885968 | missense variant | C/A;T | snv | 3 | ||||
rs724159946 | 1.000 | 12 | 11884541 | missense variant | G/A | snv | 7.0E-06 | 3 | |||
rs759838407 | 0.925 | 0.160 | 13 | 108209756 | frameshift variant | AG/-;AGAG | delins | 3 | |||
rs760370 | 0.925 | 0.120 | 6 | 44233216 | intron variant | A/G | snv | 0.36 | 3 | ||
rs7694379 | 1.000 | 4 | 87265357 | intron variant | G/A | snv | 0.40 | 3 | |||
rs7729269 | 0.925 | 0.040 | 5 | 113384697 | intron variant | T/C | snv | 0.17 | 3 | ||
rs786205154 | 1.000 | 0.120 | 12 | 11885921 | coding sequence variant | GAACA/- | delins | 3 | |||
rs869320714 | 1.000 | 17 | 35557404 | missense variant | A/T | snv | 3 | ||||
rs869320715 | 1.000 | 17 | 35557406 | missense variant | T/A | snv | 3 | ||||
rs879255268 | 0.925 | 0.040 | 20 | 37403347 | missense variant | G/A | snv | 3 | |||
rs1064797085 | 1.000 | 11 | 128810620 | frameshift variant | ATTA/- | delins | 2 | ||||
rs10759637 | 1.000 | 0.040 | 9 | 113262744 | 3 prime UTR variant | A/C | snv | 0.47 | 2 | ||
rs121918552 | 1.000 | 0.040 | 7 | 25123996 | missense variant | C/T | snv | 2 | |||
rs1554800065 | 1.000 | 0.120 | 10 | 27100445 | 5 prime UTR variant | G/C | snv | 2 | |||
rs1569061768 | 1.000 | 0.120 | 21 | 34859477 | stop gained | G/A | snv | 2 |