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: rs1565930588
rs1565930588
HSPB8
19 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
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: rs1563083759
rs1563083759
TNPO3
6 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0
dbSNP: rs1553265369
rs1553265369
LMNA
1 1.000 0.120 1 156134954 inframe deletion GAG/- delins 0.700 0
dbSNP: rs1553265436
rs1553265436
LMNA
1 1.000 0.120 1 156135214 inframe deletion GAACAG/- delins 0.700 0
dbSNP: rs1553265761
rs1553265761
LMNA
1 1.000 0.120 1 156136111 inframe deletion GAG/- delins 0.700 0
dbSNP: rs1555421871
rs1555421871
CAPN3
6 0.882 0.120 15 42399617 frameshift variant G/- delins 0.700 0
dbSNP: rs1556962271
rs1556962271
DMD
2 0.925 0.120 X 31875197 frameshift variant -/AATG delins 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: rs797045898
rs797045898
POMT2
1 1.000 0.120 14 77283874 splice acceptor variant CTAGG/TCA delins 0.700 0
dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
21 0.827 0.120 15 42387803 frameshift variant A/- delins 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: rs142908436
rs142908436
GMPPB
4 0.851 0.120 3 49722057 missense variant G/A;T snv 1.0E-04; 1.2E-05 0.700 1.000 6 2015 2017
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: 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: rs121909518
rs121909518
FLNC ; FLNC-AS1
3 0.882 0.120 7 128858475 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1457591395
rs1457591395
WWP1
1 1.000 0.120 8 86427804 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
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: rs199474724
rs199474724
LMNA
4 0.851 0.120 1 156134839 missense variant G/A snv 0.010 1.000 1 2012 2012
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: rs367543077
rs367543077
TBCE ; B3GALNT2
3 0.882 0.120 1 235450286 stop gained G/A snv 0.010 1.000 1 2015 2015
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