Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs372187772 | 1.000 | 0.080 | 22 | 18913477 | stop gained | G/A;C | snv | 9.8E-06; 4.9E-06 | 2 | ||
rs387906776 | 1.000 | 0.080 | 5 | 173232775 | missense variant | G/A;C;T | snv | 4.2E-06; 8.4E-06 | 3 | ||
rs546772104 | 6 | 139373448 | missense variant | G/A;T | snv | 5.0E-06; 5.0E-06 | 1 | ||||
rs121965033 | 0.925 | 0.120 | 4 | 1002333 | missense variant | T/C;G | snv | 4.0E-06 | 3 | ||
rs145570263 | 9 | 100292626 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||||
rs751426149 | 14 | 23389617 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs2010963 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 82 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs1222213359 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 62 | |||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs1570360 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 38 | ||
rs1982073 | 0.649 | 0.640 | 19 | 41353016 | missense variant | G/A;C | snv | 32 | |||
rs4759314 | 0.649 | 0.440 | 12 | 53968051 | non coding transcript exon variant | G/A | snv | 0.93 | 31 | ||
rs1060499548 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 27 | |||
rs12190287 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 19 | |||
rs41291957 | 0.882 | 0.200 | 5 | 149428827 | intron variant | G/A | snv | 0.12 | 7 | ||
rs870142 | 0.851 | 0.120 | 4 | 4646320 | intron variant | C/G;T | snv | 7 | |||
rs16835979 | 0.851 | 0.120 | 4 | 4633549 | intron variant | C/A | snv | 0.20 | 6 | ||
rs6824295 | 0.851 | 0.120 | 4 | 4612553 | intron variant | C/T | snv | 0.20 | 6 | ||
rs804280 | 0.882 | 0.120 | 8 | 11755189 | intron variant | C/A;G | snv | 6 | |||
rs886037834 | 0.827 | 0.160 | 7 | 47846960 | missense variant | C/G | snv | 7.0E-06 | 6 | ||
rs1060499547 | 1.000 | 9 | 130862890 | missense variant | A/G | snv | 4 | ||||
rs368418329 | 0.925 | 0.120 | 8 | 11708019 | 5 prime UTR variant | G/T | snv | 5.9E-03 | 3 |