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: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2009 2012
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
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 2018 2018
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2018 2018
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2018 2018
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 2018 2018
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.030 1.000 3 2009 2014
dbSNP: rs237025
rs237025
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2006 2006
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.010 1.000 1 2009 2009
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs17855750
rs17855750
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs706778
rs706778
19 0.695 0.320 10 6056986 intron variant C/T snv 0.46 0.010 1.000 1 2010 2010
dbSNP: rs3761549
rs3761549
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs3733197
rs3733197
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.010 1.000 1 2013 2013
dbSNP: rs3118470
rs3118470
10 0.752 0.360 10 6059750 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs10181656
rs10181656
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs1053005
rs1053005
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1179251
rs1179251
14 0.763 0.320 12 68251271 intron variant C/G snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs3789604
rs3789604
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 1.000 1 2010 2010