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: 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: rs1563083759
rs1563083759
TNPO3
6 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0
dbSNP: rs747064211
rs747064211
PRKN
1 1.000 0.120 6 161350178 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
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: rs202247792
rs202247792
LAMA2
5 0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 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: 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: rs1553846331
rs1553846331
DOK7
4 0.925 0.120 4 3473504 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: 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: rs1553521119
rs1553521119
DYSF
5 0.925 0.120 2 71513892 frameshift variant C/- del 0.700 0
dbSNP: rs1553555585
rs1553555585
DYSF
2 0.925 0.120 2 71570335 splice donor variant G/T snv 0.700 0
dbSNP: rs200916654
rs200916654
DYSF
4 0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 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: 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: 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: rs757082154
rs757082154
TTN ; TTN-AS1
9 1.000 0.120 2 178527491 stop gained G/A snv 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: rs770905160
rs770905160
DYSF
5 0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 0.700 0
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: rs367543077
rs367543077
TBCE ; B3GALNT2
3 0.882 0.120 1 235450286 stop gained G/A snv 0.010 1.000 1 2015 2015