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: rs121913003
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 27 1998 2017
dbSNP: rs121913003
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		0.010 1.000 1 2004 2004
dbSNP: rs121913003
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 1.000 1 2004 2004
dbSNP: rs121913003
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.010 1.000 1 2004 2004
dbSNP: rs121913003
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv
CUI: C0030552
Disease: Paresis
Paresis 		0.010 1.000 1 2004 2004
dbSNP: rs121913003
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		0.010 1.000 1 2004 2004