Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 | |||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs63751273 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 42 | |||
rs28937900 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 37 | ||
rs370717845 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 33 | |||
rs63750424 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 30 | ||
rs1555735545 | 0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv | 22 | |||
rs555145190 | 0.732 | 0.360 | 17 | 42543921 | stop gained | G/A;C;T | snv | 4.2E-06 | 21 | ||
rs63750264 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 17 | |||
rs713041 | 0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 | 16 | ||
rs1556424691 | 0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv | 13 | |||
rs572842823 | 0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv | 11 | |||
rs1424266770 | 0.790 | 0.200 | 4 | 184632307 | missense variant | C/G | snv | 8.0E-06 | 10 | ||
rs767543900 | 0.790 | 0.120 | 17 | 45971879 | missense variant | A/C;G | snv | 4.0E-06 | 10 | ||
rs63750577 | 0.827 | 0.120 | 14 | 73186881 | missense variant | C/T | snv | 8 | |||
rs63750852 | 0.790 | 0.120 | 14 | 73170998 | missense variant | G/A;T | snv | 8 | |||
rs775129479 | 0.851 | 0.120 | 16 | 1791387 | missense variant | G/A;C;T | snv | 1.6E-05; 8.1E-06; 8.1E-06 | 6 | ||
rs781587642 | 0.851 | 0.120 | 2 | 219250557 | missense variant | G/A;C | snv | 2.0E-05 | 6 | ||
rs1977412 | 0.882 | 0.160 | 1 | 230716523 | intron variant | T/A;C | snv | 5 | |||
rs281865071 | 0.882 | 0.080 | 1 | 154571759 | missense variant | C/G;T | snv | 5 | |||
rs63751011 | 0.925 | 0.120 | 17 | 46010418 | intron variant | C/T | snv | 4 | |||
rs763868966 | 1.000 | 0.080 | 17 | 44911429 | stop gained | C/A;G;T | snv | 1.2E-05; 4.0E-05 | 4 |