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: rs121913002
rs121913002
DES
0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 1.000 21 1998 2017
dbSNP: rs121913002
rs121913002
DES
0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I 		0.700 1.000 3 1999 2016
dbSNP: rs121913002
rs121913002
DES
0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.020 1.000 2 2001 2008
dbSNP: rs121913002
rs121913002
DES
0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 1.000 2 2003 2008
dbSNP: rs121913002
rs121913002
DES
0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 1.000 1 1999 1999
dbSNP: rs121913002
rs121913002
DES
0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1999 1999
dbSNP: rs121913002
rs121913002
DES
0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		0.010 1.000 1 2003 2003