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: rs1003706636
rs1003706636
1 1.000 0.120 1 247424639 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs1018981
rs1018981
1 1.000 0.120 7 41335525 intergenic variant C/A snv 3.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2009 2009
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: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 1.000 1 2009 2009
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: rs10919563
rs10919563
3 0.925 0.120 1 198731313 intron variant G/A snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs10931481
rs10931481
5 0.827 0.240 2 191090126 intron variant G/A snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs10954213
rs10954213
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.010 < 0.001 1 2018 2018
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2011 2011
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: rs11466018
rs11466018
7 0.827 0.200 16 3254739 missense variant A/G snv 6.6E-03 2.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs11893432
rs11893432
5 0.827 0.120 2 191057148 intron variant C/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs12708716
rs12708716
7 0.807 0.320 16 11086016 intron variant A/G snv 0.37 0.010 1.000 1 2010 2010
dbSNP: rs12917716
rs12917716
4 0.851 0.200 16 11095291 intron variant G/C snv 0.51 0.010 1.000 1 2010 2010
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: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 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: rs2104286
rs2104286
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 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: rs2240337
rs2240337
2 0.925 0.200 1 17347727 intron variant C/T snv 9.5E-02 0.010 1.000 1 2017 2017
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