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: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.050 1.000 5 2008 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.030 1.000 3 2012 2019
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.030 1.000 3 2008 2012
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 < 0.001 2 2013 2019
dbSNP: rs4516035
rs4516035
VDR
10 0.776 0.360 12 47906043 non coding transcript exon variant T/C snv 0.31 0.020 1.000 2 2006 2017
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.020 0.500 2 2012 2019
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: rs121909800
rs121909800
VDR
6 0.807 0.360 12 47844859 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1540339
rs1540339
VDR
1 1.000 0.120 12 47863543 intron variant C/T snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs4760648
rs4760648
VDR
4 0.851 0.200 12 47886882 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs757343
rs757343
VDR
6 0.807 0.360 12 47845892 intron variant C/T snv 0.12 0.010 1.000 1 2008 2008
dbSNP: rs9729
rs9729
VDR
1 1.000 0.120 12 47842840 3 prime UTR variant G/C;T snv 0.010 1.000 1 2006 2006