Disease: Neuromuscular Diseases
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs267607143
TRPV4
0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 5
rs267607146
TRPV4
0.851 0.080 12 109800666 missense variant G/A;T snv 7.0E-06 5
rs267607145
TRPV4
0.882 0.080 12 109798820 missense variant G/A;T snv 4