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 0.010 1.000 1 2015 2015
dbSNP: rs3087456
rs3087456
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs749292
rs749292
4 0.851 0.160 15 51266534 intron variant G/A snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs755622
rs755622
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2010 2010
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: rs4355801
rs4355801
5 0.882 0.120 8 118911634 regulatory region variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1064795104
rs1064795104
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
dbSNP: rs751093906
rs751093906
8 0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121909149
rs121909149
2 0.925 0.160 4 2831573 missense variant G/A;C snv 0.020 1.000 2 2012 2014
dbSNP: rs28360457
rs28360457
3 0.882 0.200 12 121175426 missense variant G/A snv 8.6E-03 1.1E-02 0.020 1.000 2 2012 2012
dbSNP: rs104893941
rs104893941
9 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.010 1.000 1 2007 2007
dbSNP: rs1057516036
rs1057516036
4 0.925 0.160 7 94423065 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs121908668
rs121908668
5 0.882 0.240 11 68357673 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1335534133
rs1335534133
DMD
1 1.000 0.080 X 32485069 missense variant G/A snv 9.5E-06 0.010 1.000 1 2005 2005
dbSNP: rs151344517
rs151344517
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1557043622
rs1557043622
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1653624
rs1653624
2 0.925 0.120 12 121184717 missense variant T/A snv 1.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.010 1.000 1 2012 2012
dbSNP: rs2273073
rs2273073
3 0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs235768
rs235768
8 0.807 0.160 20 6778468 missense variant A/G;T snv 0.67 0.010 1.000 1 2006 2006