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: rs201892814
rs201892814
CAPN3
8 1.000 0.040 15 42403721 intron variant C/G snv 3.1E-03; 2.4E-05 3.1E-03 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: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs375014127
rs375014127
ANO5
5 1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 0.700 0
dbSNP: rs398123383
rs398123383
LAMA2
4 1.000 0.120 6 129460287 stop gained C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs622288
rs622288
MSTO1 ; LOC105371452
15 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-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: rs757917335
rs757917335
DYSF
6 1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 0.700 0
dbSNP: rs768090444
rs768090444
CAPN3
3 1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 2.1E-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: rs776474397
rs776474397
ANO5
1 11 22227300 splice acceptor variant A/G snv 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: rs886042604
rs886042604
DMD
3 1.000 0.120 X 33020138 splice donor variant C/G;T snv 0.700 0
dbSNP: rs886044913
rs886044913
TRIM32 ; ASTN2
1 9 116699102 frameshift variant -/TA delins 0.700 0
dbSNP: rs886044915
rs886044915
ANO5
1 11 22236272 missense variant A/C snv 0.700 0
dbSNP: rs886044916
rs886044916
DMD
1 X 31209534 missense variant T/C snv 0.700 0
dbSNP: rs914586984
rs914586984
SCN4A ; LOC105371858
9 1.000 0.120 17 63959275 missense variant G/C;T snv 0.700 0