Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs200803778 | 1.000 | 0.080 | 3 | 146921799 | non coding transcript exon variant | TTTG/- | delins | 1.0E-02 | 1 | ||
rs201486960 | 1.000 | 0.080 | 12 | 84532353 | intergenic variant | AAGA/- | delins | 1 | |||
rs3214606 | 1.000 | 0.080 | 12 | 31324008 | 5 prime UTR variant | TAAG/-;TAAGTAAG | delins | 7.9E-03 | 1 | ||
rs33981001 | 1.000 | 0.080 | 8 | 41655130 | 3 prime UTR variant | GTGTGTGT/-;GT;GTGT;GTGTGT;GTGTGTGTGT;GTGTGTGTGTGT;GTGTGTGTGTGTGT;GTGTGTGTGTGTGTGT;GTGTGTGTGTGTGTGTGT | delins | 0.44 | 1 | ||
rs34204798 | 1.000 | 0.080 | 10 | 79191374 | intron variant | G/-;GG;GGG;GGGG | delins | 1 | |||
rs386418874 | 1.000 | 0.080 | 10 | 112988102 | intron variant | GT/-;GTGT;GTGTGT | delins | 1 | |||
rs67148051 | 1.000 | 0.080 | 13 | 32979947 | intergenic variant | ACAG/-;ACAGACAG | delins | 1 | |||
rs72156956 | 1.000 | 0.080 | 2 | 640987 | intergenic variant | TACA/-;TACATACA | delins | 1 | |||
rs753056119 | 1.000 | 0.080 | 20 | 44424348 | frameshift variant | C/- | delins | 1 | |||
rs782100977 | 1.000 | 0.080 | X | 48866249 | intergenic variant | AAAAAA/-;AAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAA | delins | 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 | |||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 |