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: rs30187
rs30187
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.020 1.000 2 2011 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2005 2010
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2005 2015
dbSNP: rs1003706636
rs1003706636
1 1.000 0.120 1 247424639 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs10431961
rs10431961
1 1.000 0.120 16 3050094 synonymous variant C/G;T snv 4.0E-06; 0.32 0.010 1.000 1 2015 2015
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2012 2012
dbSNP: rs10988542
rs10988542
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11225055
rs11225055
1 1.000 0.120 11 101900702 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs1127354
rs1127354
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs12652364
rs12652364
1 1.000 0.120 5 30835972 intergenic variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1332099
rs1332099
14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs17435
rs17435
4 0.851 0.200 X 154046529 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1980422
rs1980422
9 0.776 0.320 2 203745673 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
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 2008 2008
dbSNP: rs2488457
rs2488457
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs2738774
rs2738774
14 0.724 0.240 20 63637985 downstream gene variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs2807264
rs2807264
14 0.724 0.240 X 136583619 downstream gene variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs2893922
rs2893922
1 1.000 0.120 10 63487259 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2015 2015