Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs953088090 | 12 | 25227262 | missense variant | T/C | snv | 2 | |||||
rs1463850736 | 12 | 25225676 | missense variant | C/A;G;T | snv | 4.0E-06 | 1 | ||||
rs200970347 | 1.000 | 12 | 25215476 | missense variant | C/T | snv | 5.5E-04 | 3.0E-04 | 1 | ||
rs387907206 | 1.000 | 12 | 25225625 | missense variant | T/C | snv | 1 | ||||
rs757816355 | 12 | 25225657 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 1 | |||
rs606231202 | 1.000 | 0.040 | 12 | 25245355 | inframe insertion | -/CCA | delins | 1 | |||
rs121913538 | 0.882 | 0.080 | 12 | 25245328 | missense variant | C/A;G | snv | 3 | |||
rs560890523 | 1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins | 3 | |||
rs7973450 | 0.882 | 0.080 | 12 | 25208208 | 3 prime UTR variant | A/G | snv | 0.20 | 3 | ||
rs1137188 | 1.000 | 0.080 | 12 | 25206418 | 3 prime UTR variant | G/A | snv | 0.49 | 2 | ||
rs57698689 | 1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins | 0.48 | 2 | ||
rs104886028 | 1.000 | 0.080 | 12 | 25227308 | missense variant | C/T | snv | 1 | |||
rs61761074 | 1.000 | 0.080 | 12 | 25244659 | intron variant | A/C | snv | 2.7E-02 | 1 | ||
rs727503106 | 1.000 | 0.080 | 12 | 25227234 | missense variant | C/T | snv | 1 | |||
rs749177256 | 1.000 | 0.080 | 12 | 25215538 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs7960917 | 1.000 | 0.080 | 12 | 25208712 | 3 prime UTR variant | T/C | snv | 0.18 | 1 | ||
rs8720 | 1.000 | 0.080 | 12 | 25206009 | 3 prime UTR variant | T/C | snv | 0.49 | 1 | ||
rs1137282 | 0.851 | 0.120 | 12 | 25209843 | missense variant | A/G;T | snv | 0.19 | 5 | ||
rs7312175 | 0.827 | 0.120 | 12 | 25251670 | upstream gene variant | G/A | snv | 0.16 | 5 | ||
rs397517040 | 0.925 | 0.120 | 12 | 25245346 | synonymous variant | G/A;T | snv | 4.0E-06 | 2 | ||
rs121913528 | 0.851 | 0.160 | 12 | 25227349 | missense variant | C/A;T | snv | 12 | |||
rs121913236 | 0.882 | 0.160 | 12 | 25245321 | missense variant | G/C;T | snv | 4 | |||
rs727503110 | 0.882 | 0.160 | 12 | 25245320 | missense variant | T/A;C | snv | 3 | |||
rs104894364 | 0.925 | 0.160 | 12 | 25227351 | missense variant | G/A | snv | 2 | |||
rs1135401776 | 1.000 | 0.160 | 12 | 25225624 | missense variant | T/C | snv | 2 |