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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.931 29 2002 2019
dbSNP: rs4132601
rs4132601
9 0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25 0.040 1.000 4 2014 2019
dbSNP: rs10994982
rs10994982
7 0.790 0.120 10 61950345 intron variant A/G snv 0.49 0.030 0.667 3 2014 2019
dbSNP: rs2239633
rs2239633
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.030 1.000 3 2014 2017
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.020 1.000 2 2009 2012
dbSNP: rs10821936
rs10821936
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.020 1.000 2 2014 2019
dbSNP: rs11978267
rs11978267
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.020 1.000 2 2017 2019
dbSNP: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.020 1.000 2 2009 2010
dbSNP: rs3731217
rs3731217
10 0.763 0.320 9 21984662 intron variant A/C;T snv 0.020 1.000 2 2017 2018
dbSNP: rs3824662
rs3824662
11 0.752 0.320 10 8062245 intron variant C/A;T snv 0.020 1.000 2 2013 2017
dbSNP: rs7088318
rs7088318
4 0.851 0.120 10 22564019 intron variant C/A snv 0.55 0.020 1.000 2 2013 2016
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 1999 2018
dbSNP: rs924607
rs924607
7 0.851 0.120 5 609978 intron variant C/T snv 0.32 0.020 1.000 2 2016 2019
dbSNP: rs10106
rs10106
4 0.851 0.200 9 127813796 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs10235796
rs10235796
3 0.882 0.120 7 50394939 intron variant T/C snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs10519612
rs10519612
3 0.882 0.120 4 141732548 intron variant A/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1057519743
rs1057519743
6 0.827 0.120 Y 1196852 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1057519866
rs1057519866
5 0.851 0.120 10 103093198 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs10828317
rs10828317
9 0.776 0.280 10 22550699 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs111978267
rs111978267
3 0.882 0.120 11 2751648 intron variant C/G;T snv 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs12434881
rs12434881
3 0.882 0.120 14 23119433 5 prime UTR variant G/A snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1275561861
rs1275561861
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1296957097
rs1296957097
3 0.882 0.120 22 28719401 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1310678797
rs1310678797
VDR
3 0.882 0.120 12 47857143 missense variant C/T snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1427331568
rs1427331568
3 0.882 0.120 5 143314010 missense variant G/C snv 0.010 1.000 1 2008 2008