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: rs17231506
rs17231506
10 0.851 0.040 16 56960616 upstream gene variant C/G;T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs181705462
rs181705462
4 0.851 0.040 6 31979250 intron variant G/C;T snv 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: rs191281603
rs191281603
4 0.851 0.040 1 196989521 intron variant C/G;T snv 4.6E-03 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: rs2043085
rs2043085
9 0.827 0.080 15 58388755 intron variant T/C snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs2070895
rs2070895
15 0.807 0.120 15 58431740 intron variant G/A snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs2284665
rs2284665
3 0.882 0.040 10 122467114 intron variant G/A;T snv 0.700 1.000 1 2017 2017
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: rs2303790
rs2303790
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.700 1.000 1 2015 2015
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: 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: rs2842339
rs2842339
4 0.851 0.040 14 68520282 intron variant G/A snv 0.90 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: 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: rs3750846
rs3750846
4 0.851 0.040 10 122456049 intron variant T/C snv 0.24 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: 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: rs4482537
rs4482537
2 0.925 0.040 2 48825116 intron variant C/T snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs55975637
rs55975637
4 0.851 0.040 3 99701009 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs570618
rs570618
CFH
6 0.827 0.040 1 196687934 intron variant T/G snv 0.69 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: rs5817082
rs5817082
4 0.851 0.040 16 56963437 intron variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs58978565
rs58978565
TNR
3 0.882 0.040 1 175376466 intron variant -/AGAGT ins 0.37 0.700 1.000 1 2018 2018
dbSNP: rs61818925
rs61818925
4 0.851 0.040 1 196846320 upstream gene variant T/G snv 0.67 0.700 1.000 1 2016 2016