Disease: Muscular Dystrophies, Limb-Girdle
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 9
rs760768093
TTN-AS1 ; TTN
0.882 0.160 2 178533255 frameshift variant C/- delins 2.4E-05 1.4E-05 7
rs116840805
SSUH2 ; CAV3
0.827 0.160 3 8745725 missense variant C/T snv 6
rs869025337
BVES
0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 5