DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
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: rs121912998
rs121912998
1.000 0.040 6 7542003 missense variant G/A snv 1.6E-03 1.1E-03
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy
Cardiovascular Diseases 0.700 0
dbSNP: rs1554108172
rs1554108172
0.925 0.080 6 7579983 stop gained G/T snv
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy
Cardiovascular Diseases 0.700 0