Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121912678 | 0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv | 8 | |||
rs206936 | 0.882 | 0.160 | 6 | 34335092 | intron variant | A/G | snv | 0.34 | 8 | ||
rs121912436 | 0.827 | 0.080 | 21 | 31667274 | missense variant | G/A;C | snv | 7 | |||
rs28363170 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 7 | ||
rs397515323 | 0.851 | 0.080 | X | 24503479 | missense variant | G/A | snv | 7 | |||
rs63750416 | 0.851 | 0.120 | 17 | 46010373 | missense variant | A/C | snv | 7 | |||
rs397507548 | 0.851 | 0.160 | 12 | 112489093 | missense variant | A/C | snv | 6 | |||
rs606231193 | 0.925 | 0.080 | X | 48902391 | frameshift variant | AGAG/-;AG;AGAGAG | delins | 6 | |||
rs879253767 | 0.882 | 0.080 | 2 | 165313738 | frameshift variant | T/- | delins | 6 | |||
rs1057519866 | 0.851 | 0.120 | 10 | 103093198 | missense variant | C/T | snv | 5 | |||
rs2281997 | 0.882 | 0.240 | 9 | 34521869 | intron variant | T/A;C | snv | 5 | |||
rs3836790 | 0.882 | 0.080 | 5 | 1411740 | intron variant | -/ACATACACACTCAGACACACATACCATGCA | ins | 5 | |||
rs397509345 | 0.851 | 0.160 | 12 | 112489093 | missense variant | AG/CC | mnv | 5 | |||
rs1057518011 | 1 | 1535766 | missense variant | C/T | snv | 4 | |||||
rs121908153 | 0.882 | 0.080 | 1 | 247424356 | missense variant | G/A;C | snv | 4 | |||
rs202151337 | 0.925 | 0.160 | 12 | 51806788 | missense variant | A/G | snv | 4 | |||
rs2284411 | 1.000 | 0.040 | 12 | 13713238 | intron variant | C/T | snv | 0.34 | 4 | ||
rs6191 | 0.925 | 0.040 | 5 | 143278591 | 3 prime UTR variant | C/A | snv | 0.48 | 4 | ||
rs121908672 | 0.925 | 0.080 | 11 | 68357802 | missense variant | C/T | snv | 3 | |||
rs121918626 | 0.925 | 0.080 | 2 | 166012179 | missense variant | T/G | snv | 3 | |||
rs2110267 | 1.000 | 0.040 | 7 | 153838604 | intergenic variant | C/G | snv | 0.32 | 3 | ||
rs2161961 | 18 | 11774501 | intron variant | A/G | snv | 0.31 | 3 | ||||
rs363043 | 0.925 | 0.080 | 20 | 10245498 | intron variant | C/T | snv | 0.30 | 3 | ||
rs875989839 | 1.000 | 6 | 165450242 | missense variant | C/G | snv | 3 | ||||
rs945270 | 0.925 | 0.040 | 14 | 55733755 | intergenic variant | C/G;T | snv | 3 |