Source: ALL
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: rs8057341
rs8057341
2 0.925 0.080 16 50704069 intron variant A/G snv 0.68 0.010 < 0.001 1 2018 2018
dbSNP: rs9264868
rs9264868
1 1.000 0.040 6 31303824 intron variant A/G snv 0.10 0.700 1.000 1 2009 2009
dbSNP: rs9270856
rs9270856
1 1.000 0.040 6 32603062 intergenic variant A/G snv 0.74 0.700 1.000 1 2009 2009
dbSNP: rs9567307
rs9567307
1 1.000 0.040 13 43897741 intron variant A/G snv 0.27 0.700 1.000 1 2015 2015
dbSNP: rs1554286
rs1554286
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs3753395
rs3753395
CFH
5 0.882 0.120 1 196717522 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs13220141
rs13220141
1 1.000 0.040 6 146576497 intergenic variant A/T snv 8.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs76886731
rs76886731
1 1.000 0.040 2 102328956 intron variant A/T snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs5743618
rs5743618
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.020 1.000 2 2010 2013
dbSNP: rs1800630
rs1800630
17 0.701 0.480 6 31574699 upstream gene variant C/A snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs35829419
rs35829419
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs73058713
rs73058713
1 1.000 0.040 5 20374104 intron variant C/A snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2019 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2221593
rs2221593
1 1.000 0.040 1 212700089 upstream gene variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3088362
rs3088362
1 1.000 0.040 13 43859494 intron variant C/A;T snv 0.710 1.000 3 2009 2016
dbSNP: rs9356058
rs9356058
1 1.000 0.040 6 162730367 intron variant C/A;T snv 0.020 1.000 2 2012 2013
dbSNP: rs10905284
rs10905284
4 0.882 0.200 10 8073399 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs6863015
rs6863015
1 1.000 0.040 5 159416227 intron variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1800972
rs1800972
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.010 1.000 1 2009 2009
dbSNP: rs77061563
rs77061563
1 1.000 0.040 16 11358685 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs6478108
rs6478108
10 0.763 0.200 9 114796423 intron variant C/T snv 0.73 0.810 1.000 3 2009 2016
dbSNP: rs7194886
rs7194886
4 0.851 0.080 16 50691282 upstream gene variant C/T snv 0.38 0.710 1.000 2 2009 2012