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: 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: rs1565930588
rs1565930588
HSPB8
19 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
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: 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: rs1553264624
rs1553264624
LMNA
1 1.000 0.120 1 156130724 inframe deletion AGCGCACGCTGGAGG/- del 0.700 0
dbSNP: rs1553265369
rs1553265369
LMNA
1 1.000 0.120 1 156134954 inframe deletion GAG/- delins 0.700 0
dbSNP: rs1553265433
rs1553265433
LMNA
1 1.000 0.120 1 156135208 missense variant G/C snv 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: 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: rs1553846331
rs1553846331
DOK7
4 0.925 0.120 4 3473504 missense variant C/T snv 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: rs1557058294
rs1557058294
DMD
1 1.000 0.120 X 32823294 splice donor variant C/T snv 0.700 0
dbSNP: rs1557396600
rs1557396600
DMD
2 0.925 0.120 X 32518006 splice donor variant A/C snv 0.700 0
dbSNP: rs1563083759
rs1563083759
TNPO3
6 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0
dbSNP: rs200198778
rs200198778
POMT2
5 0.827 0.160 14 77278764 missense variant T/C snv 5.6E-05 9.8E-05 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: rs202247792
rs202247792
LAMA2
5 0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 0.700 0
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: rs267607644
rs267607644
LMNA
1 1.000 0.120 1 156115022 missense variant T/C snv 0.700 0