Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs141656719
CAPN3
0.925 0.120 15 42401754 missense variant C/T snv 4.0E-06; 8.4E-05 1.5E-04 2
rs142004418
CAPN3
0.925 0.120 15 42402878 missense variant C/G;T snv 4.0E-06; 3.6E-05 2
rs199806879
CAPN3
0.925 0.120 15 42408227 missense variant C/T snv 4.4E-05 3.5E-05 2
rs369552114
CAPN3
0.925 0.120 15 42409786 splice acceptor variant G/A snv 1.2E-05 2.8E-05 2
rs376107921
CAPN3
0.925 0.120 15 42399617 missense variant G/A;C snv 6.5E-05; 4.0E-05 2
rs774048743
CAPN3
0.925 0.120 15 42359938 missense variant G/A snv 1.2E-05 7.0E-06 2
rs863224965
CAPN3
0.925 0.120 15 42388935 inframe deletion TCCTACGAAGCTCTGAAAGGT/- delins 2
rs878854364
LOC105370794 ; CAPN3
0.925 0.120 15 42386226 stop gained C/T snv 8.0E-06 2