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: rs35292876
rs35292876
CFH
4 0.851 0.040 1 196737512 synonymous variant C/T snv 1.0E-02 8.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs140647181
rs140647181
4 0.851 0.040 3 99461824 intergenic variant T/C snv 1.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs187328863
rs187328863
4 0.851 0.040 1 196411028 intron variant C/T snv 1.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs142450006
rs142450006
4 0.851 0.040 20 45986353 regulatory region variant TTCT/-;TTCTTTCT delins 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs2295334
rs2295334
2 0.925 0.040 6 44003090 synonymous variant G/A snv 5.0E-02 3.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs72802342
rs72802342
5 0.851 0.040 16 75200974 downstream gene variant C/A snv 6.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs10507047
rs10507047
2 0.925 0.040 12 95210514 missense variant T/C snv 0.12 0.11 0.700 1.000 1 2015 2015
dbSNP: rs12661281
rs12661281
3 0.882 0.040 6 31874821 missense variant T/A snv 0.15 0.11 0.700 1.000 1 2015 2015
dbSNP: rs12019136
rs12019136
4 0.851 0.040 19 5835666 intron variant G/A snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs8002574
rs8002574
2 0.925 0.040 13 39504403 intron variant C/T snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs7803454
rs7803454
4 0.851 0.040 7 100393925 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs3138141
rs3138141
5 0.827 0.040 12 55721994 3 prime UTR variant C/A snv 0.19 0.16 0.700 1.000 1 2016 2016
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 1 2016 2016
dbSNP: rs12357257
rs12357257
4 0.851 0.040 10 24710664 intron variant G/A snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs201459901
rs201459901
4 0.851 0.040 20 58078668 regulatory region variant -/A delins 0.21 0.700 1.000 1 2016 2016
dbSNP: rs28368872
rs28368872
3 0.882 0.040 16 10491493 upstream gene variant G/A snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs11200638
rs11200638
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs10490924
rs10490924
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.700 1.000 3 2012 2017
dbSNP: rs3750846
rs3750846
4 0.851 0.040 10 122456049 intron variant T/C snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs8135665
rs8135665
4 0.851 0.040 22 38080269 intron variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs5754227
rs5754227
4 0.851 0.040 22 32709831 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs2740488
rs2740488
9 0.827 0.120 9 104899461 intron variant A/C snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs6565597
rs6565597
4 0.851 0.040 17 81559795 intron variant C/T snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs3764261
rs3764261
26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs1142
rs1142
6 0.851 0.040 7 105115879 intron variant C/T snv 0.31 0.700 1.000 1 2016 2016