Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894815 | 0.776 | 0.120 | X | 48792337 | missense variant | G/A | snv | 9 | |||
rs61749397 | 0.807 | 0.080 | 12 | 6019472 | missense variant | C/G;T | snv | 4.0E-06 | 9 | ||
rs104894816 | 0.827 | 0.120 | X | 48792377 | missense variant | A/G | snv | 6 | |||
rs80338826 | 0.827 | 0.320 | 22 | 36305985 | missense variant | G/A | snv | 6 | |||
rs121908065 | 0.851 | 0.080 | 17 | 4933119 | missense variant | C/T | snv | 5 | |||
rs121909752 | 0.925 | 0.080 | 22 | 19723980 | stop gained | G/A;C | snv | 7.5E-06 | 4 | ||
rs143873938 | 0.882 | 0.120 | X | 154365245 | missense variant | C/A;G;T | snv | 3.1E-03 | 4 | ||
rs587776454 | 0.851 | 0.160 | X | 48792346 | missense variant | G/A;C | snv | 4 | |||
rs766503255 | 0.882 | 0.080 | 17 | 44372408 | missense variant | G/A;T | snv | 4.0E-06 | 4 | ||
rs80338831 | 0.882 | 0.320 | 22 | 36292060 | missense variant | C/A;G;T | snv | 4 | |||
rs1064797086 | 0.882 | 0.080 | 11 | 128810639 | missense variant | G/A | snv | 3 | |||
rs121908063 | 0.882 | 0.080 | 17 | 4932821 | missense variant | C/T | snv | 3 | |||
rs121918037 | 0.882 | 0.080 | 3 | 129061951 | missense variant | T/C;G | snv | 4.0E-06 | 3 | ||
rs1234442507 | 1.000 | 0.040 | 20 | 59022915 | frameshift variant | AG/- | del | 4.0E-06 | 3 | ||
rs137852312 | 0.882 | 0.120 | X | 48792346 | missense variant | GG/TC | mnv | 3 | |||
rs1064797087 | 0.925 | 0.040 | 11 | 128810662 | missense variant | A/G | snv | 2 | |||
rs387907345 | 0.925 | 0.040 | 14 | 68921033 | missense variant | C/T | snv | 2 | |||
rs387907348 | 0.925 | 0.040 | 14 | 68925641 | missense variant | C/T | snv | 2 | |||
rs387907349 | 0.925 | 0.040 | 14 | 68880030 | missense variant | G/A | snv | 2 | |||
rs724159972 | 0.925 | 0.040 | 9 | 69013871 | missense variant | G/C | snv | 2 | |||
rs876657776 | 0.925 | 0.160 | 5 | 141524167 | stop gained | G/A | snv | 2 | |||
rs1213948992 | 1.000 | 0.040 | 11 | 128810761 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs387907350 | 0.925 | 0.040 | 14 | 68904658 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs750315624 | 1.000 | 0.040 | 22 | 19724358 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
rs104894809 | 0.790 | 0.120 | X | 48792371 | missense variant | G/A | snv | 9.5E-06 | 9 |