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: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.100 0.875 16 1998 2019
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.900 0.917 12 2007 2015
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.070 0.714 7 2008 2019
dbSNP: rs3118470
rs3118470
10 0.752 0.360 10 6059750 intron variant T/A;C snv 0.070 1.000 7 2007 2017
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.820 1.000 6 2009 2018
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: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.040 1.000 4 1996 2008
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.040 0.750 4 2007 2019
dbSNP: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.030 0.667 3 2006 2009
dbSNP: rs17879469
rs17879469
9 0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05 0.030 1.000 3 1998 2003
dbSNP: rs1801278
rs1801278
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.030 1.000 3 2003 2004
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.030 1.000 3 2008 2008
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.030 1.000 3 2013 2017
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: rs2281808
rs2281808
4 0.925 0.160 20 1629905 intron variant T/A;C snv 0.820 1.000 3 2009 2019
dbSNP: rs5219
rs5219
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.030 0.667 3 2004 2012
dbSNP: rs713041
rs713041
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.030 1.000 3 2013 2019
dbSNP: rs12785878
rs12785878
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.020 1.000 2 2012 2013
dbSNP: rs1332629192
rs1332629192
ALB
7 0.851 0.200 4 73404374 missense variant C/T snv 0.020 1.000 2 2007 2009
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: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.020 1.000 2 2006 2007
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.020 1.000 2 2012 2013
dbSNP: rs35744605
rs35744605
2 1.000 0.120 2 162277580 stop gained C/A;G;T snv 3.2E-03; 4.0E-06; 4.0E-06 0.020 1.000 2 2010 2012
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.020 1.000 2 2014 2016
dbSNP: rs559047
rs559047
2 1.000 0.120 1 238590616 intergenic variant T/A;C snv 0.720 0.500 2 2018 2020