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: rs1049432
rs1049432
2 0.925 0.040 10 58395360 3 prime UTR variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1071630
rs1071630
4 0.851 0.120 6 32641349 missense variant T/A;C snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs10905284
rs10905284
4 0.882 0.200 10 8073399 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11003124
rs11003124
2 1.000 0.040 10 52772131 upstream gene variant T/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs11362
rs11362
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.010 1.000 1 2009 2009
dbSNP: rs121917864
rs121917864
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs12631031
rs12631031
2 0.925 0.040 3 183857982 intron variant G/A snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs1333955
rs1333955
4 0.851 0.080 6 162792422 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs148704956
rs148704956
19 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 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: 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: rs1799724
rs1799724
LTA ; TNF
47 0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2015 2015
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: rs1800797
rs1800797
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 < 0.001 1 2015 2015
dbSNP: rs1800971
rs1800971
3 0.882 0.120 8 6870594 3 prime UTR variant T/C snv 8.0E-02 0.010 1.000 1 2009 2009
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: rs1873613
rs1873613
1 1.000 0.040 12 40158615 intron variant T/C snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs1937
rs1937
3 0.882 0.120 10 58385582 missense variant G/C snv 9.6E-02 7.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs2023004
rs2023004
1 1.000 0.040 6 162495517 intron variant T/C snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs2058660
rs2058660
4 0.882 0.280 2 102437989 intron variant G/A snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs2228048
rs2228048
2 0.925 0.120 3 30672350 synonymous variant C/T snv 5.5E-02 3.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2019 2019