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: rs1307997067
rs1307997067
7 0.851 0.320 17 3664199 missense variant A/C;G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs137853236
rs137853236
6 0.807 0.280 12 120997504 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs1555212014
rs1555212014
6 0.807 0.280 12 120994264 missense variant C/T snv 0.700 0
dbSNP: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs397507478
rs397507478
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs587776825
rs587776825
5 0.827 0.280 12 120994315 frameshift variant C/-;CC;CCC delins 0.700 0
dbSNP: rs587780357
rs587780357
1 1.000 0.120 12 120993601 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs754729248
rs754729248
6 0.807 0.280 12 120996568 missense variant C/A;G;T snv 2.4E-05; 1.9E-04; 3.6E-05 0.700 0
dbSNP: rs782511378
rs782511378
1 1.000 0.120 X 49257483 missense variant G/A snv 2.2E-05 0.700 0
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: rs10272724
rs10272724
4 0.882 0.200 7 50409515 downstream gene variant T/C snv 0.24 0.010 < 0.001 1 2011 2011
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 < 0.001 1 2007 2007
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs11889341
rs11889341
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.010 < 0.001 1 2011 2011
dbSNP: rs1232620504
rs1232620504
1 1.000 0.120 6 31354503 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs12566340
rs12566340
3 0.925 0.200 1 113877706 3 prime UTR variant C/A;T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs1800477
rs1800477
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.010 < 0.001 1 2001 2001
dbSNP: rs2043211
rs2043211
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 < 0.001 1 2019 2019
dbSNP: rs2229080
rs2229080
DCC
16 0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 0.010 < 0.001 1 2003 2003
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 < 0.001 1 2015 2015
dbSNP: rs2302188
rs2302188
1 1.000 0.120 19 41579520 missense variant G/A snv 0.36 0.010 < 0.001 1 2009 2009
dbSNP: rs2762
rs2762
1 1.000 0.120 5 96937594 non coding transcript exon variant C/T snv 0.41 0.010 < 0.001 1 2007 2007
dbSNP: rs3024866
rs3024866
1 1.000 0.120 2 191058115 splice region variant G/A snv 0.64 0.56 0.010 < 0.001 1 2013 2013
dbSNP: rs35829419
rs35829419
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 < 0.001 1 2019 2019