Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs334 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 19 | ||
rs112505971 | 10 | 27068541 | intron variant | A/C;G | snv | 13 | |||||
rs3123543 | 1 | 212617344 | intron variant | T/A;C | snv | 13 | |||||
rs3840870 | 17 | 50184820 | 3 prime UTR variant | -/CTTG | delins | 13 | |||||
rs35188965 | 5 | 1104823 | intron variant | C/G;T | snv | 12 | |||||
rs11082304 | 18 | 23141009 | intron variant | G/C;T | snv | 5 | |||||
rs56043070 | 1 | 247556467 | splice donor variant | G/A;T | snv | 5.2E-02; 4.1E-06 | 4 | ||||
rs9494145 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 4 | |||
rs11071720 | 15 | 63049797 | intron variant | T/C;G | snv | 3 | |||||
rs11601507 | 1.000 | 0.040 | 11 | 5679844 | missense variant | C/A;T | snv | 9.3E-02; 4.0E-06 | 3 | ||
rs17396340 | 1 | 10226118 | intron variant | G/A;C | snv | 3 | |||||
rs17572109 | 2 | 218229211 | non coding transcript exon variant | G/A;T | snv | 3 | |||||
rs4907622 | 13 | 113362571 | intron variant | G/C;T | snv | 3 | |||||
rs553749201 | 17 | 4933900 | synonymous variant | C/A | snv | 3 | |||||
rs11471957 | 20 | 59023277 | intron variant | -/AA | ins | 2 | |||||
rs11731274 | 4 | 6889728 | intergenic variant | T/A;G | snv | 2 | |||||
rs12096438 | 1 | 25562931 | non coding transcript exon variant | C/A;T | snv | 2 | |||||
rs12155039 | 7 | 44833526 | intron variant | C/A;T | snv | 2 | |||||
rs13042885 | 20 | 1944061 | upstream gene variant | C/A;T | snv | 2 | |||||
rs2038480 | 1 | 171970501 | intron variant | A/G;T | snv | 2 | |||||
rs216311 | 0.882 | 0.040 | 12 | 6019277 | missense variant | T/A;C | snv | 4.0E-06; 0.69 | 2 | ||
rs2455799 | 3 | 15659677 | intron variant | G/C;T | snv | 2 | |||||
rs34603233 | 17 | 44377655 | intron variant | AGCCCCTGG/-;AGCCCCTGGAGCCCCTGG | delins | 2 | |||||
rs4699154 | 4 | 105112927 | intron variant | T/A;C | snv | 2 | |||||
rs649729 | 1.000 | 0.040 | 2 | 31241519 | intron variant | T/A;C | snv | 2 |