Disease: Muscle Weakness
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1555420508
LOC105370794 ; CAPN3
15 42387891 splice region variant G/A snv 3