rs267607483, DES

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 1.000 0.160 2 219420349 splice region variant A/G;T snv 0.700 1.000 7 2000 2013
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
48 1.000 0.160 2 219420349 splice region variant A/G;T snv 0.700 1.000 7 2000 2013