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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 0.500 2 2002 2010
dbSNP: rs10178082
rs10178082
1 1.000 0.040 7 10667285 intron variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs11250144
rs11250144
BLK
2 0.925 0.200 8 11528767 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs11611206
rs11611206
4 0.851 0.200 12 68274666 intron variant G/A snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs17879469
rs17879469
9 0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05 0.010 < 0.001 1 2005 2005
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009
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
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs376511
rs376511
1 1.000 0.040 3 9921132 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs552953108
rs552953108
F2
16 0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 0.010 1.000 1 2000 2000
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 2019 2019
dbSNP: rs7632505
rs7632505
17 0.827 0.120 3 123019460 intron variant A/G snv 0.34 0.010 1.000 1 2016 2016
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: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 2000 2000