Source: ALL
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: rs387906709
rs387906709
UBQLN2
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.020 1.000 2 2014 2015
dbSNP: rs387906710
rs387906710
UBQLN2
3 0.882 0.120 X 56565362 missense variant C/T snv 0.020 1.000 2 2015 2017
dbSNP: rs387906711
rs387906711
UBQLN2
6 0.807 0.120 X 56565389 missense variant C/A;T snv 6.6E-06 0.020 1.000 2 2015 2019
dbSNP: rs781860006
rs781860006
MAGEE1
1 1.000 0.080 X 76428205 missense variant G/C snv 0.020 1.000 2 2011 2020
dbSNP: rs1164344738
rs1164344738
UBQLN2
1 1.000 0.080 X 56565469 synonymous variant C/T snv 9.4E-06 0.010 1.000 1 2018 2018
dbSNP: rs1261007995
rs1261007995
DMD
1 1.000 0.080 X 31507391 synonymous variant T/C snv 5.5E-06 0.010 1.000 1 2016 2016
dbSNP: rs1298691127
rs1298691127
AR
1 1.000 0.080 X 67711447 missense variant G/C snv 6.2E-06 0.010 1.000 1 2014 2014
dbSNP: rs1384003425
rs1384003425
UBQLN2
1 1.000 0.080 X 56565047 missense variant A/G snv 5.5E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs1391274976
rs1391274976
DMD
1 1.000 0.080 X 31774029 synonymous variant T/C snv 9.7E-06 0.010 1.000 1 2016 2016
dbSNP: rs1424595938
rs1424595938
UBQLN2
1 1.000 0.080 X 56565049 missense variant G/A snv 5.5E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs1490021329
rs1490021329
UBQLN2
2 0.925 0.080 X 56564438 missense variant C/A snv 5.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs267606673
rs267606673
ATP7A ; PGK1
9 0.776 0.240 X 78029314 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs374522677
rs374522677
UBQLN2
2 0.925 0.080 X 56564337 missense variant G/A snv 5.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs5937496
rs5937496 		1 1.000 0.080 X 76127599 regulatory region variant G/A snv 0.16 0.800 1.000 1 2009 2009
dbSNP: rs369947678
rs369947678
UBQLN2
2 0.925 0.080 X 56565446 missense variant C/A;G;T snv 2.0E-05; 2.7E-05; 3.3E-04 0.700 0
dbSNP: rs138705
rs138705
GTPBP1 ; SUN2
1 1.000 0.080 22 38737798 3 prime UTR variant C/T snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs551521196
rs551521196
CHCHD10 ; LOC107985577
3 0.882 0.080 22 23767535 missense variant G/A snv 2.8E-03 2.3E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs730880030
rs730880030
CHCHD10 ; LOC107985577
4 0.851 0.080 22 23767591 missense variant C/A snv 0.010 1.000 1 2018 2018
dbSNP: rs730880031
rs730880031
CHCHD10 ; LOC107985577
7 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs8141797
rs8141797
SUSD2
3 0.882 0.120 22 24186073 missense variant A/G snv 8.1E-02 9.8E-02 0.810 1.000 1 2013 2013
dbSNP: rs946135215
rs946135215
NEFH ; LOC107985541
1 1.000 0.080 22 29480368 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 0.995 416 1996 2020
dbSNP: rs80265967
rs80265967
SOD1
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.100 1.000 30 1995 2020
dbSNP: rs121912431
rs121912431
SOD1
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.100 1.000 17 1997 2017
dbSNP: rs121912436
rs121912436
SOD1
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.100 1.000 13 2000 2019