Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4971091 | 1 | 155171292 | non coding transcript exon variant | G/A;T | snv | 1 | |||||
rs180921974 | 1 | 155298340 | intron variant | T/G | snv | 1.1E-02 | 1 | ||||
rs1317415 | 5 | 158525396 | intron variant | T/A;C | snv | 1 | |||||
rs3027009 | 1 | 159204097 | intron variant | A/G | snv | 5.8E-02 | 2 | ||||
rs10962638 | 9 | 16846113 | intron variant | G/A;C | snv | 1 | |||||
rs113640408 | 6 | 169244314 | intron variant | CACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACACA;CACACACACACACACA;CACACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACA;CACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACA | delins | 1 | |||||
rs55750792 | 1 | 16980375 | intron variant | G/A;C | snv | 1 | |||||
rs56372408 | 2 | 171560293 | downstream gene variant | A/G | snv | 0.17 | 1 | ||||
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 58 | |
rs34022431 | 5 | 177250563 | intron variant | TT/-;T;TTT;TTTT | delins | 1 | |||||
rs545608 | 0.925 | 0.040 | 1 | 177929986 | intron variant | G/C | snv | 0.20 | 4 | ||
rs79334166 | 4 | 17857843 | intron variant | A/G | snv | 0.12 | 1 | ||||
rs888762 | 5 | 179120312 | 3 prime UTR variant | C/A;G;T | snv | 1 | |||||
rs5779197 | 1 | 184040693 | upstream gene variant | A/-;AA;AAA;AAAA;AAAAA | delins | 1 | |||||
rs10402308 | 19 | 19546691 | downstream gene variant | G/A | snv | 0.27 | 1 | ||||
rs148812496 | 2 | 197675629 | intron variant | AC/- | del | 0.43 | 1 | ||||
rs41271299 | 6 | 19839184 | intron variant | C/A;G;T | snv | 3 | |||||
rs17781552 | 1 | 203550520 | intergenic variant | G/A | snv | 0.58 | 1 | ||||
rs3823974 | 7 | 20403173 | intron variant | T/C | snv | 0.35 | 1 | ||||
rs991967 | 1 | 218442109 | 3 prime UTR variant | A/C | snv | 0.37 | 2 | ||||
rs2820443 | 0.882 | 0.120 | 1 | 219580167 | regulatory region variant | T/C | snv | 0.23 | 8 | ||
rs10916174 | 1 | 227616340 | intron variant | G/A | snv | 0.13 | 1 | ||||
rs4800148 | 18 | 23144364 | intron variant | G/A;C | snv | 4 | |||||
rs11785562 | 8 | 23533980 | intron variant | G/A | snv | 0.21 | 1 | ||||
rs754537 | 2 | 24953408 | intron variant | A/T | snv | 0.41 | 1 |