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: rs2072136
rs2072136
6 0.851 0.120 12 112961114 synonymous variant G/A;C snv 0.31; 4.0E-06 0.020 < 0.001 2 2013 2015
dbSNP: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.010 < 0.001 1 2013 2013
dbSNP: rs1131454
rs1131454
3 0.882 0.040 12 112911065 missense variant G/A;C snv 0.57 0.010 < 0.001 1 2013 2013
dbSNP: rs15895
rs15895
1 1.000 0.040 12 113010483 stop lost A/G;T snv 0.75 0.010 < 0.001 1 2013 2013
dbSNP: rs2285932
rs2285932
5 0.851 0.120 12 112949145 synonymous variant T/C snv 0.76 0.78 0.010 < 0.001 1 2013 2013
dbSNP: rs3740360
rs3740360
7 0.827 0.240 10 94265734 intron variant A/C snv 9.7E-02 8.4E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs1732778
rs1732778
5 0.882 0.080 12 113019120 upstream gene variant G/A snv 0.22 0.020 0.500 2 2013 2015
dbSNP: rs3132468
rs3132468
5 0.827 0.240 6 31507709 intron variant C/T snv 0.77 0.020 0.500 2 2013 2014
dbSNP: rs4804803
rs4804803
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.070 1.000 7 2010 2018
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.020 1.000 2 2013 2015
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.020 1.000 2 2014 2015
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1285933
rs1285933
2 0.925 0.040 7 141927349 intron variant G/A snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs1447043692
rs1447043692
2 0.925 0.040 10 98641918 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2013 2013
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1805016
rs1805016
3 0.882 0.080 16 27363606 missense variant T/G snv 6.4E-02 0.13 0.010 1.000 1 2019 2019
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 2012 2012
dbSNP: rs2287886
rs2287886
9 0.776 0.280 19 7747650 upstream gene variant A/G;T snv 0.66 0.010 1.000 1 2013 2013
dbSNP: rs3205166
rs3205166
2 0.925 0.040 9 32459452 synonymous variant T/A;G snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs371057322
rs371057322
2 0.925 0.040 2 8793960 missense variant T/C snv 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs3739319
rs3739319
2 0.925 0.040 8 39927802 intron variant G/A snv 0.40 0.37 0.010 1.000 1 2019 2019
dbSNP: rs3765524
rs3765524
17 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 0.010 1.000 1 2014 2014