Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs546989392 | 0.925 | 0.120 | 13 | 76996010 | stop gained | C/T | snv | 2.0E-05 | 7.7E-05 | 2 | |
rs104894386 | 0.925 | 0.120 | 13 | 76995077 | missense variant | G/A;C | snv | 8.0E-06 | 2 | ||
rs386833975 | 0.925 | 0.120 | 13 | 76995990 | missense variant | A/G | snv | 2 | |||
rs386833979 | 0.925 | 0.120 | 13 | 76996083 | frameshift variant | -/C | delins | 2 | |||
rs386833980 | 0.925 | 0.120 | 13 | 76996086 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 | 2 | |
rs386833966 | 0.925 | 0.120 | 13 | 77000824 | frameshift variant | T/- | delins | 2 | |||
rs386833967 | 0.925 | 0.120 | 13 | 77000845 | frameshift variant | AACA/- | delins | 2.8E-05 | 2 | ||
rs386833969 | 0.925 | 0.120 | 13 | 77000918 | frameshift variant | AT/- | delins | 2 | |||
rs786204644 | 0.925 | 0.120 | 13 | 77000667 | frameshift variant | AT/- | delins | 2 | |||
rs28940280 | 0.925 | 0.120 | 13 | 77000580 | missense variant | G/A | snv | 8.0E-06 | 2 | ||
rs104894385 | 0.925 | 0.120 | 13 | 76992176 | stop gained | G/A;T | snv | 2.7E-05; 3.1E-05 | 2 | ||
rs587780315 | 1.000 | 0.120 | 13 | 76996086 | frameshift variant | G/- | delins | 2 | |||
rs1555274338 | 1.000 | 0.120 | 13 | 77000567 | stop gained | G/A;C | snv | 2 | |||
rs1555273881 | 1.000 | 0.120 | 13 | 76995075 | frameshift variant | C/- | delins | 1 | |||
rs121908292 | 1.000 | 0.120 | 13 | 77000799 | stop gained | G/T | snv | 1 | |||
rs1057516390 | 1.000 | 0.120 | 13 | 76995901 | splice acceptor variant | G/- | del | 1 | |||
rs1555273609 | 1.000 | 0.120 | 13 | 76992215 | frameshift variant | G/- | delins | 1 | |||
rs386833964 | 1.000 | 0.120 | 13 | 77000813 | frameshift variant | CT/- | delins | 1 | |||
rs386833983 | 1.000 | 0.120 | 13 | 77000695 | frameshift variant | GGAAATGAAACATCTG/- | delins | 1 | |||
rs386833972 | 1.000 | 0.120 | 13 | 76995939 | stop gained | T/G | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs200348035 | 1.000 | 0.120 | 13 | 76992182 | stop gained | G/A;T | snv | 4.5E-06 | 1 | ||
rs386833974 | 1.000 | 0.120 | 13 | 76995980 | stop gained | C/T | snv | 1 | |||
rs1057517134 | 1.000 | 0.120 | 13 | 76992250 | frameshift variant | ACTGGCCGGTGCC/- | delins | 1 | |||
rs764790770 | 1.000 | 0.120 | 13 | 76992175 | stop gained | G/A;C | snv | 2.2E-04 | 2.8E-05 | 1 | |
rs1555274014 | 1.000 | 0.120 | 13 | 76996128 | splice donor variant | G/A | snv | 1 |