Disease: Neuromuscular Diseases
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397516248
MYH7 ; MHRT
0.851 0.200 14 23415153 missense variant C/T snv 5
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv 4
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv 4
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 3
rs57508089
LMNA
1.000 0.080 1 156136110 synonymous variant C/T snv 3
rs267607495
DES
2 219418497 missense variant C/T snv 2
rs727504448
DES
2 219420116 frameshift variant G/- del 7.0E-06 2