Disease: Distal lower limb muscle weakness
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518083
DYNC1H1
0.851 0.120 14 101986552 missense variant C/T snv 21
rs1202430946
IGHMBP2
0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 17