Source: CLINVAR

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: rs267607490
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810 1.000 9 1998 2017
dbSNP: rs267607490
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.700 0
dbSNP: rs267607490
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv
Cardiomyopathy, Hypertrophic, Familial
0.700 0
dbSNP: rs267607490
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0