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: rs267607003
rs267607003
RBM20
0.925 0.040 10 110812310 missense variant C/A;G;T snv
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.800 1.000 4 2009 2013
dbSNP: rs267607003
rs267607003
RBM20
0.925 0.040 10 110812310 missense variant C/A;G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 4 2009 2012
dbSNP: rs267607003
rs267607003
RBM20
0.925 0.040 10 110812310 missense variant C/A;G;T snv
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0