Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs60538473
rs60538473
DES
0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 0
dbSNP: rs60538473
rs60538473
DES
0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0