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: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1052553
rs1052553
8 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 0.010 < 0.001 1 2013 2013
dbSNP: rs1059174
rs1059174
1 1.000 0.080 6 29726650 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.020 1.000 2 2010 2015
dbSNP: rs1061581
rs1061581
6 0.827 0.200 6 31816809 synonymous variant G/A snv 0.020 1.000 2 2016 2019
dbSNP: rs1064395
rs1064395
3 0.882 0.120 19 19250926 3 prime UTR variant G/A snv 0.24 0.010 1.000 1 2020 2020
dbSNP: rs10735781
rs10735781
1 1.000 0.080 1 92655550 intron variant G/C snv 0.57 0.710 1.000 2 2011 2017
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.030 1.000 3 2009 2015
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2011 2011
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs10758669
rs10758669
10 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs1077667
rs1077667
2 0.925 0.120 19 6668961 intron variant C/G;T snv 0.810 1.000 3 2011 2013
dbSNP: rs10797431
rs10797431
5 0.851 0.080 1 2569783 non coding transcript exon variant G/T snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs10800309
rs10800309
3 0.925 0.120 1 161502368 upstream gene variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10806425
rs10806425
6 0.851 0.280 6 90216893 intron variant C/A snv 0.33 0.700 1.000 1 2011 2011
dbSNP: rs10807344
rs10807344
2 0.925 0.120 6 46657898 intron variant C/T snv 0.17 0.010 1.000 1 2009 2009
dbSNP: rs10823051
rs10823051
1 1.000 0.080 10 67504839 intron variant G/C snv 0.13 0.700 1.000 1 2007 2007
dbSNP: rs10866713
rs10866713
1 1.000 0.080 5 159491886 intron variant G/A snv 0.16 0.800 1.000 1 2011 2011
dbSNP: rs10876994
rs10876994
2 0.925 0.120 12 57670954 upstream gene variant A/C;T snv 0.710 1.000 2 2009 2015
dbSNP: rs10877013
rs10877013
1 1.000 0.080 12 57771302 intron variant C/T snv 0.38 0.32 0.010 1.000 1 2016 2016
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 < 0.001 1 2016 2016
dbSNP: rs10903122
rs10903122
5 0.882 0.200 1 24977085 intergenic variant A/G snv 0.56 0.700 1.000 1 2011 2011
dbSNP: rs10936599
rs10936599
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.800 1.000 1 2011 2011
dbSNP: rs10984447
rs10984447
1 1.000 0.080 9 119222275 intron variant A/G snv 0.19 0.010 1.000 1 2012 2012