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: rs2228570
rs2228570
VDR
98 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2012 2012
dbSNP: rs3890733
rs3890733
VDR
3 0.882 0.120 12 47895590 intron variant C/T snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs4760648
rs4760648
VDR
4 0.851 0.200 12 47886882 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs749140677
rs749140677
VDR
13 0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs764054471
rs764054471
VDR
2 0.925 0.160 12 47879101 missense variant C/T snv 2.4E-05 2.1E-05 0.010 1.000 1 2013 2013
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 2016 2016