Disease: Creatine phosphokinase serum increased
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs116840789
SSUH2 ; CAV3
0.925 0.080 3 8745547 missense variant G/A;T snv 6
rs398123383
LAMA2
1.000 0.120 6 129460287 stop gained C/T snv 1.6E-05 7.0E-06 4