Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121909224 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 35 | ||
rs1085308041 | 0.763 | 0.160 | 10 | 87965285 | splice acceptor variant | A/C;G | snv | 12 | |||
rs121913294 | 0.776 | 0.280 | 10 | 87952143 | missense variant | G/A;C;T | snv | 8.0E-06 | 11 | ||
rs876660634 | 0.807 | 0.200 | 10 | 87925551 | missense variant | A/C;G | snv | 10 | |||
rs1085308046 | 0.790 | 0.240 | 10 | 87933160 | missense variant | T/C;G | snv | 9 | |||
rs1085308045 | 0.807 | 0.160 | 10 | 87933128 | missense variant | C/G;T | snv | 8 | |||
rs398123316 | 0.851 | 0.160 | 10 | 87925530 | missense variant | A/G;T | snv | 8 | |||
rs1085308050 | 0.827 | 0.160 | 10 | 87933178 | frameshift variant | -/A | delins | 7 | |||
rs1085308054 | 0.827 | 0.160 | 10 | 87952231 | frameshift variant | AT/- | delins | 7 | |||
rs1085308040 | 0.851 | 0.200 | 10 | 87961096 | missense variant | G/A;T | snv | 6 | |||
rs786202918 | 0.925 | 0.080 | 10 | 87957951 | stop gained | C/T | snv | 4.0E-06 | 6 | ||
rs1085308047 | 0.827 | 0.160 | 10 | 87864509 | missense variant | A/G | snv | 6 | |||
rs1085308052 | 0.851 | 0.160 | 10 | 87952144 | frameshift variant | -/T | delins | 5 | |||
rs1085308053 | 0.882 | 0.080 | 10 | 87952230 | missense variant | C/T | snv | 5 | |||
rs1085308044 | 0.882 | 0.120 | 10 | 87864504 | missense variant | A/C | snv | 5 | |||
rs1085308042 | 0.882 | 0.120 | 10 | 87894076 | missense variant | G/A | snv | 4 | |||
rs1085308055 | 0.882 | 0.120 | 10 | 87952240 | frameshift variant | TCAGT/- | delins | 4 | |||
rs786204875 | 0.882 | 0.120 | 10 | 87960913 | stop gained | G/A;T | snv | 4 | |||
rs1085308049 | 0.925 | 0.080 | 10 | 87957885 | stop gained | A/T | snv | 3 |