Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3764383 | 1.000 | 0.080 | 17 | 78212770 | upstream gene variant | C/G;T | snv | 1 | |||
rs4789551 | 1.000 | 0.080 | 17 | 78214998 | 3 prime UTR variant | T/C | snv | 0.11 | 1 | ||
rs200595745 | 1.000 | 0.080 | 17 | 67919174 | intron variant | TAATAATAATAATAATAATAATAA/-;TAA;TAATAA;TAATAATAA;TAATAATAATAA;TAATAATAATAATAA;TAATAATAATAATAATAA;TAATAATAATAATAATAATAA;TAATAATAATAATAATAATAATAATAA;TAATAATAATAATAATAATAATAATAATAA;TAATAATAATAATAATAATAATAATAATAATAA;TAATAATAATAATAATAATAATAATAATAATAATAA | delins | 0.19 | 1 | ||
rs397516890 | 1.000 | 0.080 | 7 | 140781601 | inframe deletion | TCC/- | del | 1 | |||
rs397516897 | 1.000 | 0.080 | 7 | 140753334 | inframe deletion | TCA/- | del | 1 | |||
rs10023113 | 1.000 | 0.080 | 4 | 113625548 | intron variant | A/G | snv | 0.18 | 1 | ||
rs1405937 | 1.000 | 0.080 | 4 | 184650784 | intron variant | G/C | snv | 0.29 | 1 | ||
rs1301481068 | 1.000 | 0.080 | 11 | 119232532 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs1042852 | 1.000 | 0.080 | 3 | 105658671 | 3 prime UTR variant | C/G;T | snv | 1 | |||
rs13173911 | 1.000 | 0.080 | 5 | 214298 | non coding transcript exon variant | C/T | snv | 0.38 | 1 | ||
rs33922584 | 1.000 | 0.080 | 7 | 56058064 | missense variant | A/G | snv | 3.8E-02 | 3.8E-02 | 1 | |
rs4742098 | 1.000 | 0.080 | 9 | 5470497 | 3 prime UTR variant | A/G;T | snv | 1 | |||
rs1005165 | 1.000 | 0.080 | 19 | 45405792 | intron variant | C/T | snv | 0.21 | 1 | ||
rs7195409 | 1.000 | 0.080 | 16 | 83493987 | intron variant | G/A;T | snv | 1 | |||
rs757497674 | 1.000 | 0.080 | 9 | 21970958 | missense variant | G/A | snv | 4.1E-06 | 1 | ||
rs3176447 | 1.000 | 0.080 | 1 | 50968015 | 5 prime UTR variant | T/A | snv | 7.7E-02 | 1 | ||
rs6822976 | 1.000 | 0.080 | 4 | 109745136 | intron variant | G/A | snv | 0.41 | 1 | ||
rs7671905 | 1.000 | 0.080 | 4 | 109801730 | intron variant | T/C | snv | 0.64 | 1 | ||
rs1176037831 | 1.000 | 0.080 | 12 | 132869741 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs182073550 | 1.000 | 0.080 | 4 | 40337027 | intron variant | A/-;AA;AAA | delins | 1.2E-02 | 1 | ||
rs219741 | 1.000 | 0.080 | 21 | 36480738 | non coding transcript exon variant | C/T | snv | 0.34 | 1 | ||
rs984755949 | 1.000 | 0.080 | 6 | 33172302 | missense variant | A/C | snv | 1 | |||
rs7525160 | 1.000 | 0.080 | 1 | 207495069 | upstream gene variant | G/C | snv | 0.29 | 1 | ||
rs1804429 | 1.000 | 0.080 | 10 | 44370393 | 3 prime UTR variant | A/C;G;T | snv | 1 | |||
rs1228223399 | 1.000 | 0.080 | 2 | 38075045 | missense variant | G/A | snv | 5.0E-06 | 1 |