Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554776954 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 5 | ||||
rs1555928716 | 0.925 | X | 20167669 | stop gained | G/A | snv | 7 | ||||
rs926027867 | 0.882 | 0.040 | 5 | 150251808 | missense variant | G/A;T | snv | 12 | |||
rs1085308049 | 0.925 | 0.080 | 10 | 87957885 | stop gained | A/T | snv | 3 | |||
rs1085308053 | 0.882 | 0.080 | 10 | 87952230 | missense variant | C/T | snv | 5 | |||
rs1562927768 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 15 | |||
rs786202918 | 0.925 | 0.080 | 10 | 87957951 | stop gained | C/T | snv | 4.0E-06 | 6 | ||
rs1064794254 | 0.851 | 0.120 | X | 119841185 | frameshift variant | CT/- | delins | 6 | |||
rs1085308042 | 0.882 | 0.120 | 10 | 87894076 | missense variant | G/A | snv | 4 | |||
rs1085308044 | 0.882 | 0.120 | 10 | 87864504 | missense variant | A/C | snv | 5 | |||
rs1085308055 | 0.882 | 0.120 | 10 | 87952240 | frameshift variant | TCAGT/- | delins | 4 | |||
rs1555483699 | 0.851 | 0.120 | 16 | 9768994 | missense variant | C/T | snv | 10 | |||
rs1557569831 | 0.925 | 0.120 | 1 | 43431458 | splice acceptor variant | A/G | snv | 8 | |||
rs1564365418 | 0.882 | 0.120 | 9 | 137163846 | missense variant | G/T | snv | 5 | |||
rs587776935 | 0.827 | 0.120 | 1 | 243505296 | missense variant | G/A | snv | 7 | |||
rs746200792 | 0.925 | 0.120 | 1 | 43437254 | inframe deletion | TGT/- | delins | 8 | |||
rs786204875 | 0.882 | 0.120 | 10 | 87960913 | stop gained | G/A;T | snv | 4 | |||
rs1085308041 | 0.763 | 0.160 | 10 | 87965285 | splice acceptor variant | A/C;G | snv | 12 | |||
rs1085308045 | 0.807 | 0.160 | 10 | 87933128 | missense variant | C/G;T | snv | 8 | |||
rs1085308047 | 0.827 | 0.160 | 10 | 87864509 | missense variant | A/G | snv | 6 | |||
rs1085308050 | 0.827 | 0.160 | 10 | 87933178 | frameshift variant | -/A | delins | 7 | |||
rs1085308052 | 0.851 | 0.160 | 10 | 87952144 | frameshift variant | -/T | delins | 5 | |||
rs1085308054 | 0.827 | 0.160 | 10 | 87952231 | frameshift variant | AT/- | delins | 7 | |||
rs121918470 | 0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 | 10 | ||
rs1554904159 | 0.851 | 0.160 | 11 | 1442607 | splice donor variant | G/A | snv | 11 |