Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1339756947 | 1.000 | 0.080 | 17 | 21303189 | missense variant | C/A;T | snv | 2.0E-05 | 1 | ||
rs989026404 | 1.000 | 0.080 | 17 | 21304500 | missense variant | T/C;G | snv | 4.0E-06 | 1 | ||
rs1114167435 | 1.000 | 0.080 | 3 | 37025932 | frameshift variant | AG/- | delins | 1 | |||
rs1554298756 | 1.000 | 0.080 | 7 | 5989891 | frameshift variant | C/- | del | 1 | |||
rs1365611 | 0.925 | 0.080 | 4 | 174462542 | intergenic variant | C/T | snv | 0.28 | 2 | ||
rs2332897 | 0.925 | 0.080 | 4 | 174465154 | intergenic variant | C/A;G | snv | 0.29 | 2 | ||
rs6844282 | 0.925 | 0.080 | 4 | 174460480 | regulatory region variant | C/A;G | snv | 2 | |||
rs41395947 | 0.925 | 0.080 | 16 | 16007895 | missense variant | G/C | snv | 2.0E-05 | 7.0E-06 | 2 | |
rs41494447 | 0.925 | 0.080 | 16 | 16007985 | missense variant | C/T | snv | 4.4E-04 | 2.2E-04 | 2 | |
rs8086 | 0.925 | 0.080 | 4 | 184756267 | 3 prime UTR variant | C/T | snv | 0.24 | 2 | ||
rs3811802 | 0.925 | 0.080 | 4 | 99323064 | intron variant | A/C;G;T | snv | 2 | |||
rs4147536 | 0.925 | 0.080 | 4 | 99317955 | non coding transcript exon variant | A/C | snv | 0.71 | 2 | ||
rs283415 | 0.925 | 0.080 | 4 | 99349450 | intron variant | C/T | snv | 0.64 | 2 | ||
rs1724120 | 0.925 | 0.080 | 2 | 96143592 | 3 prime UTR variant | T/C | snv | 0.53 | 2 | ||
rs869312783 | 1.000 | 0.080 | 10 | 86892181 | frameshift variant | -/TTAG | delins | 2 | |||
rs1238788540 | 0.925 | 0.080 | 7 | 140800368 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs431825362 | 0.925 | 0.080 | 13 | 32363187 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs12485716 | 0.925 | 0.080 | 3 | 122260843 | intron variant | G/A | snv | 0.36 | 2 | ||
rs17250717 | 0.925 | 0.080 | 3 | 122261339 | intron variant | G/T | snv | 7.4E-02 | 2 | ||
rs1802757 | 0.925 | 0.080 | 3 | 122286284 | 3 prime UTR variant | C/T | snv | 0.17 | 2 | ||
rs3804592 | 0.925 | 0.080 | 3 | 122260382 | intron variant | G/A | snv | 0.18 | 2 | ||
rs4678174 | 0.925 | 0.080 | 3 | 122282024 | intron variant | C/T | snv | 0.56 | 2 | ||
rs2470144 | 0.925 | 0.080 | 15 | 51329528 | intron variant | T/C | snv | 0.60 | 2 | ||
rs1287152741 | 0.925 | 0.080 | 5 | 80633984 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 2 | |
rs147740818 | 0.925 | 0.200 | 7 | 55142324 | missense variant | A/G | snv | 2 |