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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2013 2013
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs1057519766
rs1057519766
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs767464424
rs767464424
3 0.925 0.080 2 37222420 frameshift variant T/- delins 4.2E-06 0.010 1.000 1 2016 2016
dbSNP: rs777017502
rs777017502
3 0.925 0.080 2 37222420 missense variant T/C;G snv 4.2E-06; 4.2E-06 0.010 1.000 1 2016 2016
dbSNP: rs387906659
rs387906659
14 0.742 0.280 19 40257052 stop gained C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2011 2011
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
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 2016 2016
dbSNP: rs11978267
rs11978267
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs4132601
rs4132601
9 0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.030 1.000 3 2005 2013
dbSNP: rs2230724
rs2230724
4 0.851 0.120 9 5081780 synonymous variant G/A snv 0.53 0.62 0.010 1.000 1 2012 2012
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2006 2006
dbSNP: rs1325757098
rs1325757098
6 0.827 0.160 16 71576223 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs8073069
rs8073069
7 0.807 0.200 17 78213692 upstream gene variant G/C snv 0.33 0.010 < 0.001 1 2018 2018
dbSNP: rs9904341
rs9904341
20 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 0.010 1.000 1 2018 2018
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2012 2012
dbSNP: rs1532268
rs1532268
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2012 2012
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.030 1.000 3 2010 2016
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs562015640
rs562015640
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1470755915
rs1470755915
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs927698341
rs927698341
10 0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2011 2011