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: rs267607483
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 7 2000 2013
dbSNP: rs267607483
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
0.700 1.000 7 2000 2013