Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2954021 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 14 | ||
rs7775698 | 1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 | 14 | ||
rs28601761 | 1.000 | 0.040 | 8 | 125487789 | intron variant | C/G | snv | 0.37 | 13 | ||
rs603424 | 1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 | 13 | ||
rs715 | 1.000 | 0.040 | 2 | 210678331 | 3 prime UTR variant | T/C | snv | 0.28 | 12 | ||
rs77542162 | 1.000 | 0.040 | 17 | 69085137 | missense variant | A/G | snv | 9.3E-03 | 1.0E-02 | 10 | |
rs4760 | 1.000 | 0.080 | 19 | 43648948 | missense variant | A/G | snv | 0.12 | 0.11 | 7 | |
rs17534202 | 1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 | 6 | ||
rs2272783 | 1.000 | 18 | 57571588 | synonymous variant | A/G | snv | 0.12 | 6.3E-02 | 5 | ||
rs34651 | 1.000 | 0.040 | 5 | 72848178 | non coding transcript exon variant | C/T | snv | 0.94 | 5 | ||
rs3768321 | 1.000 | 0.080 | 1 | 39570256 | intron variant | G/T | snv | 0.14 | 5 | ||
rs7394579 | 1.000 | 0.080 | 11 | 61813978 | intron variant | A/G | snv | 0.22 | 5 | ||
rs7606173 | 1.000 | 0.080 | 2 | 60498316 | intron variant | G/C;T | snv | 0.39 | 5 | ||
rs112329286 | 1.000 | 0.080 | 14 | 63773159 | intron variant | -/ATTT | delins | 0.24 | 4 | ||
rs1169299 | 1.000 | 0.080 | 12 | 120991391 | intron variant | T/C | snv | 0.43 | 4 | ||
rs12764899 | 1.000 | 0.040 | 10 | 102875346 | intron variant | G/A | snv | 0.21 | 4 | ||
rs17183295 | 1.000 | 17 | 32751254 | intron variant | C/T | snv | 0.14 | 4 | |||
rs7512552 | 1.000 | 0.120 | 1 | 150293284 | upstream gene variant | T/C | snv | 0.63 | 4 | ||
rs10011838 | 1.000 | 0.080 | 4 | 152599127 | intergenic variant | G/A | snv | 0.42 | 3 | ||
rs11585926 | 1.000 | 0.040 | 1 | 114431068 | intron variant | T/C | snv | 0.22 | 3 | ||
rs12136973 | 1.000 | 0.080 | 1 | 175171183 | intron variant | T/C | snv | 0.22 | 3 | ||
rs12449852 | 1.000 | 0.080 | 17 | 39475835 | intron variant | A/G | snv | 0.79 | 3 | ||
rs1647381 | 1.000 | 0.040 | 15 | 56794001 | intron variant | C/G | snv | 0.12 | 3 | ||
rs2027605 | 1.000 | 0.120 | 21 | 29354452 | intron variant | A/G | snv | 0.48 | 3 | ||
rs332388 | 1.000 | 0.080 | 3 | 66361431 | intron variant | T/C | snv | 0.55 | 3 |