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: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.030 0.667 3 2011 2019
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.020 1.000 2 2013 2019
dbSNP: rs1993116
rs1993116
8 0.827 0.200 11 14888688 intron variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs2647051
rs2647051
1 1.000 0.080 6 32703120 downstream gene variant T/C snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs2856723
rs2856723
2 0.925 0.120 6 32699985 intergenic variant A/G snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs12711521
rs12711521
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.020 1.000 2 2008 2011
dbSNP: rs10903035
rs10903035
2 1.000 0.080 1 24155450 3 prime UTR variant G/A snv 0.63 0.030 1.000 3 2011 2014
dbSNP: rs1539019
rs1539019
6 0.882 0.240 1 247436999 intron variant A/C snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs6726639
rs6726639
1 1.000 0.080 2 111995520 intron variant A/C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs1126579
rs1126579
8 0.776 0.200 2 218136011 3 prime UTR variant T/C snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs708564
rs708564
1 1.000 0.080 11 2388869 intron variant C/T snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs3921
rs3921
8 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 0.030 1.000 3 2014 2018
dbSNP: rs4619915
rs4619915
3 0.882 0.120 4 76034048 3 prime UTR variant A/G snv 0.61 0.020 1.000 2 2014 2015
dbSNP: rs1143629
rs1143629
3 0.882 0.160 2 112835941 intron variant G/A snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs7553796
rs7553796
2 0.925 0.120 1 154431930 intron variant A/C snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.020 1.000 2 2009 2019
dbSNP: rs11506105
rs11506105
4 0.851 0.160 7 55152484 intron variant A/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs4374383
rs4374383
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.710 1.000 2 2012 2018
dbSNP: rs1049606
rs1049606
4 0.851 0.160 12 4273870 5 prime UTR variant C/T snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs2305482
rs2305482
4 0.851 0.200 17 39984674 intron variant A/C snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs1562902
rs1562902
3 0.925 0.120 11 14896670 upstream gene variant C/T snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.020 1.000 2 2016 2020
dbSNP: rs4969170
rs4969170
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 0.020 1.000 2 2012 2018
dbSNP: rs7944926
rs7944926
7 0.807 0.200 11 71454579 intron variant A/G snv 0.54 0.010 1.000 1 2013 2013