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: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs10088262
rs10088262
2 0.925 0.160 8 123753462 intergenic variant A/G snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs1014867
rs1014867
3 0.925 0.080 4 125491736 missense variant C/T snv 4.9E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1035142
rs1035142
7 0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs1039808
rs1039808
3 0.925 0.080 4 125318831 missense variant C/G;T snv 4.0E-06; 0.41 0.010 1.000 1 2013 2013
dbSNP: rs10437048
rs10437048
1 1.000 0.080 1 17356224 intron variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs1047972
rs1047972
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.010 1.000 1 2012 2012
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs10509670
rs10509670
5 0.851 0.080 10 94308190 intron variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs10931936
rs10931936
6 0.827 0.120 2 201279205 intron variant T/C snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs10953615
rs10953615
1 1.000 0.080 7 109512654 intergenic variant A/G snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs11125529
rs11125529
3 0.882 0.280 2 54248729 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 < 0.001 1 2015 2015
dbSNP: rs1131691021
rs1131691021
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs11473
rs11473
BSG
4 0.882 0.080 19 582982 3 prime UTR variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11548103
rs11548103
4 0.882 0.080 1 153615864 splice region variant C/T snv 0.40 0.39 0.010 1.000 1 2017 2017
dbSNP: rs115510139
rs115510139
6 0.827 0.120 2 237331726 intron variant A/T snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs11674595
rs11674595
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs121912654
rs121912654
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs121912657
rs121912657
24 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs12508222
rs12508222
3 0.925 0.080 4 125449492 missense variant G/A;T snv 4.3E-02; 2.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2012 2012