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: rs61368398
rs61368398
DES
1.000 0.160 2 219421380 missense variant G/A;C;T snv 3.2E-05
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 2 2011 2014
dbSNP: rs61368398
rs61368398
DES
1.000 0.160 2 219421380 missense variant G/A;C;T snv 3.2E-05
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		0.010 1.000 1 2005 2005