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: 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: 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: 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: rs58932704
rs58932704
LMNA
8 0.776 0.200 1 156136413 missense variant C/T snv 0.700 0
dbSNP: rs59332535
rs59332535
LMNA
5 0.827 0.160 1 156134911 missense variant G/A snv 0.700 0
dbSNP: rs60458016
rs60458016
LMNA
5 0.827 0.120 1 156136036 stop gained G/A;T snv 0.700 0
dbSNP: rs61672878
rs61672878
LMNA
11 0.776 0.200 1 156136094 missense variant G/A;T snv 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: rs755660222
rs755660222
POMT2
1 1.000 0.120 14 77301228 frameshift variant C/- delins 1.2E-05 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: 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: 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: rs770905160
rs770905160
DYSF
5 0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs778768583
rs778768583
CAPN3
10 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 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: 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: 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: rs886039785
rs886039785
DMD
7 0.925 0.120 X 31496876 stop gained C/T snv 0.700 0
dbSNP: rs886042108
rs886042108
CAPN3
10 0.851 0.120 15 42409930 splice acceptor variant G/C;T snv 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