Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs727504348 | 0.925 | 0.160 | X | 101397982 | missense variant | C/T | snv | 2 | |||
rs398123226 | 0.882 | 0.160 | X | 101398403 | missense variant | G/C;T | snv | 3 | |||
rs28935197 | 0.776 | 0.280 | X | 101398942 | missense variant | T/C | snv | 5.5E-06 | 10 | ||
rs199473684 | 0.925 | 0.160 | X | 101399747 | 3 prime UTR variant | C/T | snv | 3 | |||
rs104894845 | 0.807 | 0.160 | X | 101401752 | missense variant | C/G;T | snv | 5.5E-04 | 8 | ||
rs104894833 | 0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 | 11 | |
rs397515871 | 1.000 | 0.040 | X | 101407834 | missense variant | A/T | snv | 1 | |||
rs376477806 | 0.925 | 0.040 | 12 | 101648107 | missense variant | G/A | snv | 8.0E-06 | 2 | ||
rs778924100 | 0.925 | 0.040 | 12 | 104318981 | stop gained | C/G;T | snv | 2.0E-05; 4.0E-06 | 2 | ||
rs759589565 | 0.925 | 0.040 | 12 | 104321227 | missense variant | A/G | snv | 4.0E-05 | 3.5E-05 | 2 | |
rs570903247 | 1.000 | 0.040 | 2 | 105363414 | missense variant | C/A;T | snv | 1.1E-04; 2.4E-05 | 1 | ||
rs113188481 | 1.000 | 0.040 | 2 | 105363443 | missense variant | C/T | snv | 3.5E-03 | 1.4E-02 | 1 | |
rs727504674 | 1.000 | 0.040 | 2 | 105363461 | missense variant | G/A | snv | 6.3E-05 | 1.3E-04 | 1 | |
rs104894630 | 0.882 | 0.120 | 17 | 10692805 | missense variant | G/A | snv | 4 | |||
rs587777220 | 0.882 | 0.120 | 17 | 10692932 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 4 | |
rs561901401 | 1.000 | 0.040 | 11 | 1074959 | non coding transcript exon variant | G/C;T | snv | 1.8E-05 | 2 | ||
rs745428980 | 1.000 | 0.040 | 11 | 1075743 | non coding transcript exon variant | G/A;T | snv | 8.2E-06; 4.1E-06 | 2 | ||
rs368972037 | 0.925 | 0.080 | 12 | 10882431 | missense variant | G/C | snv | 1.7E-05 | 2 | ||
rs397516407 | 0.925 | 0.080 | 12 | 110911090 | missense variant | T/C;G | snv | 2 | |||
rs397516406 | 0.925 | 0.040 | 12 | 110911093 | missense variant | C/T | snv | 2 | |||
rs199474814 | 1.000 | 0.040 | 12 | 110911094 | missense variant | C/T | snv | 1 | |||
rs727503296 | 1.000 | 0.040 | 12 | 110911096 | missense variant | T/C | snv | 1 | |||
rs397516399 | 1.000 | 0.040 | 12 | 110914200 | missense variant | C/G;T | snv | 1 | |||
rs587782965 | 0.882 | 0.080 | 12 | 110914221 | missense variant | G/T | snv | 3 | |||
rs397516398 | 1.000 | 0.040 | 12 | 110914267 | missense variant | C/T | snv | 1 |