DES, desmin, 1674

N. diseases: 330; N. variants: 63
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1432061016
rs1432061016
2 219421446 missense variant T/C snv
CUI: C0741933
Disease: cardiac symptom
cardiac symptom
0.010 1.000 1 2008 2008