Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs116840799
CAV3 ; SSUH2
1.000 0.040 3 8745599 missense variant C/G snv 2
rs119462982
POMT1
1.000 0.120 9 131509801 missense variant G/C snv 8.0E-06 2
rs121908960
DYSF
1.000 0.120 2 71553131 missense variant G/A;T snv 5.6E-05 2
rs121908961
DYSF
1.000 0.120 2 71667376 missense variant A/G snv 2
rs1562449164
LAMA2
1.000 0.120 6 129314653 splice acceptor variant A/C snv 2
rs267607045
SGCD
1.000 0.200 5 156594940 missense variant G/C snv 2
rs28936383
SGCB
1.000 0.200 4 52028899 missense variant G/C snv 1.4E-05 2
rs387907150
DNAJB6
1.000 7 157367402 missense variant T/A;C snv 2
rs397509417
TRAPPC11
1.000 4 183701783 missense variant G/A snv 7.2E-05 1.4E-05 2
rs45495192
TCAP
1.000 0.120 17 39665391 stop gained C/A;G;T snv 4.0E-06; 2.7E-04; 1.0E-03 2
rs750083132
CAPN3
1.000 0.120 15 42410633 missense variant A/G snv 8.0E-06 2
rs903823830
SGCA ; LOC105371818
1.000 0.200 17 50167422 missense variant T/C snv 2