Disease: Creatine phosphokinase serum increased
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv 7
rs1553521119
DYSF
0.925 0.120 2 71513892 frameshift variant C/- del 5
rs202247792
LAMA2
0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 5
rs770905160
DYSF
0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 5
rs1553846331
DOK7
0.925 0.120 4 3473504 missense variant C/T snv 4
rs200916654
DYSF
0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 4
rs756015202
DOK7
0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 4