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: 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: rs1057519766
rs1057519766
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs111033563
rs111033563
8 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 0.010 1.000 1 2005 2005
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: rs11978267
rs11978267
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121918464
rs121918464
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1239681664
rs1239681664
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
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: 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: 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: 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: rs1799929
rs1799929
11 0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012
dbSNP: rs1801280
rs1801280
14 0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39 0.010 1.000 1 2019 2019
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: 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: 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: 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: rs2239633
rs2239633
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs2295080
rs2295080
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019