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: rs1556962271
rs1556962271
DMD
2 0.925 0.120 X 31875197 frameshift variant -/AATG delins 0.700 0
dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
21 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
dbSNP: rs58034145
rs58034145
LMNA
10 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1557396600
rs1557396600
DMD
2 0.925 0.120 X 32518006 splice donor variant A/C snv 0.700 0
dbSNP: rs1057518925
rs1057518925
COL6A2
4 1.000 0.120 21 46114006 splice acceptor variant A/G snv 0.700 0
dbSNP: rs121908110
rs121908110
FKRP
4 0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05 0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
22 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
dbSNP: rs746438011
rs746438011
SYNE1
4 0.882 0.120 6 152430672 missense variant A/G;T snv 1.2E-05 0.700 0
dbSNP: rs1553264624
rs1553264624
LMNA
1 1.000 0.120 1 156130724 inframe deletion AGCGCACGCTGGAGG/- del 0.700 0
dbSNP: rs1553521119
rs1553521119
DYSF
5 0.925 0.120 2 71513892 frameshift variant C/- del 0.700 0
dbSNP: rs755660222
rs755660222
POMT2
1 1.000 0.120 14 77301228 frameshift variant C/- delins 1.2E-05 0.700 0
dbSNP: rs760768093
rs760768093
TTN ; TTN-AS1
7 0.882 0.160 2 178533255 frameshift variant C/- delins 2.4E-05 1.4E-05 0.700 0
dbSNP: rs142336618
rs142336618
GMPPB
5 0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04 0.700 1.000 7 2013 2017
dbSNP: rs121908458
rs121908458
MYOT ; LOC101928005
4 0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs770905160
rs770905160
DYSF
5 0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs780302064
rs780302064
LMNA
1 1.000 0.120 1 156137212 missense variant C/G;T snv 9.5E-06 0.700 0
dbSNP: rs116840805
rs116840805
CAV3 ; SSUH2
6 0.827 0.160 3 8745725 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121908457
rs121908457
MYOT ; LOC101928005
13 0.882 0.120 5 137870815 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2007 2007
dbSNP: rs28933693
rs28933693
SGCA ; LOC105371818
3 0.882 0.200 17 50167653 missense variant C/T snv 4.6E-04 4.5E-04 0.010 1.000 1 2005 2005
dbSNP: rs368970223
rs368970223
ANO5
3 0.882 0.160 11 22255403 stop gained C/T snv 1.6E-05 4.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs369758958
rs369758958
OBSCN
1 1.000 0.120 1 228316753 missense variant C/T snv 3.3E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs72554656
rs72554656
ATP7A ; PGK1
1 1.000 0.120 X 78042645 stop gained C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs1553846331
rs1553846331
DOK7
4 0.925 0.120 4 3473504 missense variant C/T snv 0.700 0
dbSNP: rs1557058294
rs1557058294
DMD
1 1.000 0.120 X 32823294 splice donor variant C/T snv 0.700 0