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: rs267607004
rs267607004
RBM20
0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD 		0.800 1.000 7 2009 2015