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: rs387907298
rs387907298
SGCA ; LOC105371818
2 0.925 0.200 17 50168562 stop gained C/T snv 5.7E-06 0.700 0
dbSNP: rs397517497
rs397517497
TTN
2 1.000 0.120 2 178790707 splice donor variant C/T snv 4.8E-05 5.6E-05 0.700 0
dbSNP: rs58932704
rs58932704
LMNA
8 0.776 0.200 1 156136413 missense variant C/T snv 0.700 0
dbSNP: rs756015202
rs756015202
DOK7
4 0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 0.700 0
dbSNP: rs886039785
rs886039785
DMD
7 0.925 0.120 X 31496876 stop gained C/T snv 0.700 0
dbSNP: rs797045898
rs797045898
POMT2
1 1.000 0.120 14 77283874 splice acceptor variant CTAGG/TCA delins 0.700 0
dbSNP: rs1555421871
rs1555421871
CAPN3
6 0.882 0.120 15 42399617 frameshift variant G/- delins 0.700 0
dbSNP: rs1563083759
rs1563083759
TNPO3
6 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0
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: rs199474724
rs199474724
LMNA
4 0.851 0.120 1 156134839 missense variant G/A snv 0.010 1.000 1 2012 2012
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: rs376510500
rs376510500
TGM2
1 1.000 0.120 20 38156054 missense variant G/A snv 2.4E-05 4.9E-05 0.010 1.000 1 2005 2005
dbSNP: rs57207746
rs57207746
LMNA
2 0.925 0.120 1 156134860 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs975757101
rs975757101
ANO5
1 1.000 0.120 11 22226034 synonymous variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs28936415
rs28936415
PMM2
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs34997054
rs34997054
DYSF
1 1.000 0.120 2 71511847 missense variant G/A snv 7.1E-03 4.1E-03 0.700 0
dbSNP: rs549794342
rs549794342
NEB ; RIF1
4 0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04 0.700 0
dbSNP: rs59332535
rs59332535
LMNA
5 0.827 0.160 1 156134911 missense variant G/A snv 0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
9 1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs769561386
rs769561386
LMNA
1 1.000 0.120 1 156138575 missense variant G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs869025337
rs869025337
BVES
5 0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs267607576
rs267607576
LMNA
2 0.925 0.160 1 156136219 missense variant G/A;C snv 1.2E-05 0.700 0
dbSNP: rs267607634
rs267607634
LMNA
2 0.925 0.120 1 156136045 missense variant G/A;C snv 0.700 0
dbSNP: rs548397345
rs548397345
SMCHD1
2 0.925 0.120 18 2724901 missense variant G/A;C;T snv 4.9E-06; 4.9E-06; 4.4E-05 0.010 1.000 1 2015 2015