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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.060 1.000 6 2006 2018
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.060 1.000 6 2006 2018
dbSNP: rs121913364
rs121913364
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.030 1.000 3 2011 2016
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.020 1.000 2 2016 2018
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.020 1.000 2 2016 2018
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.020 1.000 2 2016 2018
dbSNP: rs17849071
rs17849071
8 0.776 0.160 3 179218439 intron variant T/G snv 7.9E-02 0.020 1.000 2 2012 2014
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs10877012
rs10877012
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11214077
rs11214077
12 0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs1188536960
rs1188536960
5 0.882 0.120 15 45043305 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs121908874
rs121908874
7 0.807 0.080 14 81143584 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs12794714
rs12794714
15 0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35 0.010 1.000 1 2012 2012
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1800861
rs1800861
RET
3 0.882 0.160 10 43118395 synonymous variant G/A;T snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs1800863
rs1800863
RET
4 0.851 0.160 10 43120185 synonymous variant C/A;G snv 1.6E-05; 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1991517
rs1991517
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.010 1.000 1 1999 1999
dbSNP: rs2248137
rs2248137
5 0.827 0.160 20 54173204 intron variant C/G snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs2296241
rs2296241
12 0.763 0.200 20 54169680 synonymous variant G/A snv 0.49 0.51 0.010 1.000 1 2012 2012
dbSNP: rs4646536
rs4646536
14 0.724 0.440 12 57764205 intron variant A/G snv 0.38 0.32 0.010 1.000 1 2012 2012
dbSNP: rs73070954
rs73070954
2 0.925 0.040 2 208248572 missense variant C/T snv 3.5E-03 1.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs749395621
rs749395621
2 0.925 0.040 15 90087536 missense variant T/C;G snv 4.0E-06; 3.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs752021744
rs752021744
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.010 1.000 1 2013 2013