Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386134243
LMNA
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 16
rs267607632
LMNA
0.851 0.120 1 156134976 splice donor variant G/A;C snv 4
rs58932704
LMNA
0.776 0.200 1 156136413 missense variant C/T snv 4
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 4