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: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2015 2018
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs4844880
rs4844880
4 0.882 0.240 1 209697571 intron variant A/T snv 0.70 0.010 1.000 1 2012 2012
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs9525641
rs9525641
3 0.925 0.080 13 42573888 intron variant T/C snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs10843047
rs10843047
1 1.000 0.080 12 27979579 intergenic variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs42294
rs42294
1 1.000 0.080 12 27984936 regulatory region variant G/T snv 0.77 0.010 1.000 1 2015 2015
dbSNP: rs72648326
rs72648326
7 0.790 0.240 17 50195288 stop gained G/A snv 0.700 0
dbSNP: rs72651642
rs72651642
7 0.790 0.240 17 50191826 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1044032
rs1044032
2 0.925 0.080 15 45676237 missense variant T/C snv 0.24 0.19 0.020 1.000 2 2015 2018
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2012 2015
dbSNP: rs1054627
rs1054627
3 1.000 0.080 4 87811540 missense variant G/A snv 0.30 0.24 0.010 1.000 1 2015 2015
dbSNP: rs17013181
rs17013181
1 1.000 0.080 4 87811611 missense variant A/G snv 0.21 0.26 0.010 1.000 1 2015 2015
dbSNP: rs2230911
rs2230911
6 0.807 0.360 12 121177328 missense variant C/G snv 0.14 0.12 0.010 1.000 1 2019 2019
dbSNP: rs2274907
rs2274907
5 0.851 0.200 1 160882036 missense variant A/G;T snv 0.66 0.010 1.000 1 2015 2015
dbSNP: rs374772670
rs374772670
3 0.882 0.160 11 61962313 missense variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs374838013
rs374838013
DMD
1 1.000 0.080 X 32365046 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs3751143
rs3751143
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs6166
rs6166
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.010 1.000 1 2010 2010
dbSNP: rs1555574303
rs1555574303
7 0.790 0.240 17 50196172 missense variant C/G snv 0.700 0
dbSNP: rs66612022
rs66612022
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.700 0
dbSNP: rs67543427
rs67543427
8 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 0
dbSNP: rs67879854
rs67879854
7 0.790 0.240 17 50190578 missense variant C/A;T snv 0.700 0
dbSNP: rs72645357
rs72645357
8 0.776 0.240 17 50196163 missense variant C/T snv 0.700 0