Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113358888
rs113358888
1 14 106464462 upstream gene variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs146222776
rs146222776
1 19 35763280 intron variant -/A delins 0.10 0.700 1.000 1 2018 2018
dbSNP: rs33944729
rs33944729
CFH
1 1 196682994 intron variant -/A delins 0.69 0.700 1.000 1 2018 2018
dbSNP: rs34172480
rs34172480
1 1 154426920 intron variant -/A ins 3.9E-05 0.700 1.000 1 2018 2018
dbSNP: rs11390840
rs11390840
CFH
1 1 196662874 intron variant -/A;AA delins 0.700 1.000 1 2018 2018
dbSNP: rs146682150
rs146682150
1 6 32640505 intron variant -/A;GAA delins 0.700 1.000 1 2018 2018
dbSNP: rs3917539
rs3917539
1 7 95308384 intron variant -/AA delins 0.42 0.700 1.000 1 2018 2018
dbSNP: rs528143584
rs528143584
1 5 103098337 intron variant -/AAA delins 0.700 1.000 1 2018 2018
dbSNP: rs10690148
rs10690148
1 11 18271957 downstream gene variant -/ACTTA delins 0.82 0.700 1.000 1 2018 2018
dbSNP: rs10624573
rs10624573
1 5 35857481 intron variant -/AGAAG delins 0.41 0.700 1.000 1 2018 2018
dbSNP: rs397964890
rs397964890
1 5 96787817 intron variant -/AT;ATAT delins 0.63 0.700 1.000 1 2018 2018
dbSNP: rs5851138
rs5851138
1 3 98773647 intron variant -/AT;CAT ins 0.91 0.700 1.000 1 2018 2018
dbSNP: rs200130057
rs200130057
1 16 1227888 intron variant -/C ins 0.700 1.000 1 2018 2018
dbSNP: rs75077631
rs75077631
1 5 177413083 intron variant -/C delins 0.56 0.700 1.000 1 2018 2018
dbSNP: rs148604553
rs148604553
1 16 69795259 intron variant -/CA ins 0.700 1.000 1 2018 2018
dbSNP: rs398073595
rs398073595
1 9 136213967 intron variant -/CA delins 0.700 1.000 1 2018 2018
dbSNP: rs113265260
rs113265260
1 6 31422584 intron variant -/CA;CACA delins 0.700 1.000 1 2018 2018
dbSNP: rs553864359
rs553864359
1 2 306687 intron variant -/CACA delins 0.700 1.000 1 2018 2018
dbSNP: rs142201367
rs142201367
1 4 186235350 intron variant -/CCTAACTTCATCACCTT;CTAACTTCATCACCTT;TCTAACTT;TCTAACTTCATCACCTT;TTCTAACTTCATCACCTT delins 0.700 1.000 1 2018 2018
dbSNP: rs369636044
rs369636044
1 10 104245565 intron variant -/CCTACAGGATGCAGGACTGGCAGGCAGCTCCACCTGCAGCCC;CCTACGGGATGCAGGACTGGCAGGCAGCTCCACCTGCAGCCC;CCTATGGGATGCAGGACTGGCAGGCAGCTCCACCTGCAGCCC;GCTACGGGATGCAGGACTGGCAGGCAGCTCCACCTGCAGCCC delins 0.700 1.000 1 2018 2018
dbSNP: rs34954997
rs34954997
1 19 44914381 5 prime UTR variant -/CGTT delins 0.23 0.700 1.000 1 2018 2018
dbSNP: rs140142103
rs140142103
CFH
1 1 196692600 intron variant -/CT delins 0.63 0.700 1.000 1 2018 2018
dbSNP: rs34418941
rs34418941
1 2 102356208 non coding transcript exon variant -/CT delins 7.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs200436316
rs200436316
1 17 58309246 inframe insertion -/CTCTTCCTC delins 4.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs145827860
rs145827860
1 19 7716791 intergenic variant -/CTGGGGGC ins 0.700 1.000 1 2018 2018