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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 1.000 8 2003 2020
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.040 1.000 4 2017 2019
dbSNP: rs142293996
rs142293996
NVL
1 1.000 0.120 1 224260357 intron variant C/A snv 1.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs1711347
rs1711347
1 1.000 0.120 1 243998680 intron variant G/A snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs184340784
rs184340784
2 0.925 0.160 1 4529823 intergenic variant C/T snv 6.1E-04 0.700 1.000 1 2019 2019
dbSNP: rs228648
rs228648
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2012 2012
dbSNP: rs2808629
rs2808629
3 0.925 0.160 1 159707006 upstream gene variant G/A snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs2811893
rs2811893
1 1.000 0.120 1 58696476 intron variant T/C snv 0.39 0.800 1.000 1 2011 2011
dbSNP: rs2890565
rs2890565
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs3007729
rs3007729
1 1.000 0.120 1 18468761 regulatory region variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs3818569
rs3818569
2 0.925 0.160 1 165419892 synonymous variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs476141
rs476141
1 1.000 0.120 1 244013122 intron variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs512825
rs512825
1 1.000 0.120 1 244006892 intron variant A/G snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs6128
rs6128
5 0.851 0.360 1 169593666 synonymous variant C/A;T snv 2.8E-05; 0.24 0.010 1.000 1 2015 2015
dbSNP: rs6427247
rs6427247
2 0.925 0.160 1 170411339 regulatory region variant A/G snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs6704078
rs6704078
2 0.925 0.200 1 216437370 intergenic variant C/T snv 0.94 0.010 1.000 1 2019 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2000 2000
dbSNP: rs74152685
rs74152685
1 1.000 0.120 1 247647989 intron variant G/T snv 4.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2013 2013
dbSNP: rs2230774
rs2230774
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 < 0.001 1 2010 2010
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.050 0.600 5 2005 2017
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 0.750 4 2005 2017
dbSNP: rs13064954
rs13064954
1 1.000 0.120 3 157136953 downstream gene variant G/A snv 7.9E-02 0.810 1.000 2 2011 2016
dbSNP: rs1043045
rs1043045
1 1.000 0.120 3 57928451 3 prime UTR variant T/C snv 0.31 0.010 1.000 1 2015 2015