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: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2014 2014
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: rs3770748
rs3770748
2 0.925 0.120 2 37368382 5 prime UTR variant A/G snv 0.18 0.010 1.000 1 2007 2007
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: rs4844880
rs4844880
4 0.882 0.240 1 209697571 intron variant A/T snv 0.70 0.010 1.000 1 2012 2012
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: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2018 2018
dbSNP: rs73354570
rs73354570
1 1.000 0.080 17 72125316 3 prime UTR variant A/C snv 6.7E-02 0.010 1.000 1 2020 2020
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