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
0.878 0.143 2 219425734 missense variant C/T snp
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.810 1.000 3 2007 2017
dbSNP: rs267607490
rs267607490
DES
0.878 0.143 2 219425734 missense variant C/T snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs267607490
rs267607490
DES
0.878 0.143 2 219425734 missense variant C/T snp
Cardiomyopathy, Hypertrophic, Familial
0.700 0
dbSNP: rs267607490
rs267607490
DES
0.878 0.143 2 219425734 missense variant C/T snp
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I
0.700 0