Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894848 | 1.000 | 0.160 | X | 101407710 | missense variant | C/G | snv | 1 | |||
rs869312135 | 1.000 | 0.160 | X | 101407842 | missense variant | A/G | snv | 1 | |||
rs869312139 | 1.000 | 0.160 | X | 101407714 | missense variant | T/A | snv | 1 | |||
rs104894837 | 1.000 | 0.160 | X | 101401743 | missense variant | G/A | snv | 1 | |||
rs104894839 | 1.000 | 0.160 | X | 101398508 | stop gained | C/A;T | snv | 1 | |||
rs104894840 | 1.000 | 0.160 | X | 101398906 | missense variant | C/G;T | snv | 1 | |||
rs104894842 | 1.000 | 0.160 | X | 101398079 | stop gained | C/T | snv | 1 | |||
rs104894843 | 1.000 | 0.160 | X | 101398075 | stop gained | G/A;C | snv | 1 | |||
rs104894844 | 1.000 | 0.160 | X | 101397907 | stop gained | C/A;T | snv | 5.5E-06 | 1 | ||
rs104894846 | 0.925 | 0.160 | X | 101398481 | missense variant | C/T | snv | 1 | |||
rs104894849 | 1.000 | 0.160 | X | 101398004 | stop gained | A/G;T | snv | 5.5E-06 | 1 | ||
rs104894851 | 0.925 | 0.200 | X | 101398920 | stop gained | G/T | snv | 1 | |||
rs104894852 | 0.925 | 0.200 | X | 101397871 | missense variant | T/C | snv | 1 | |||
rs1057516429 | 1.000 | 0.160 | X | 101403936 | stop gained | T/A | snv | 1 | |||
rs1060500747 | 1.000 | 0.160 | X | 101398851 | stop gained | C/T | snv | 1 | |||
rs111812846 | 1.000 | 0.160 | X | 101398495 | missense variant | C/G;T | snv | 1 | |||
rs112341092 | 1.000 | 0.160 | X | 101397855 | missense variant | A/G | snv | 1 | |||
rs1555985200 | 1.000 | 0.160 | X | 101398947 | splice acceptor variant | C/- | del | 1 | |||
rs1555985827 | 1.000 | 0.160 | X | 101401723 | stop gained | G/A;T | snv | 1 | |||
rs1555985830 | 1.000 | 0.160 | X | 101401740 | missense variant | C/T | snv | 1 | |||
rs1569302697 | 1.000 | 0.160 | X | 101398023 | inframe deletion | TCCTGCCGGTTTATC/- | delins | 1 | |||
rs1569304190 | 1.000 | 0.160 | X | 101401735 | missense variant | A/C | snv | 1 | |||
rs1569304851 | 1.000 | 0.160 | X | 101403873 | stop gained | C/A | snv | 1 | |||
rs1569304886 | 1.000 | 0.160 | X | 101403914 | missense variant | A/C | snv | 1 | |||
rs28935485 | 0.925 | 0.160 | X | 101398534 | missense variant | G/C | snv | 1 |