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: rs45546039
rs45546039
SCN5A
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.710 1.000 9 2008 2012
dbSNP: rs727504801
rs727504801
SCN5A
0.925 0.080 3 38560397 frameshift variant G/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 5 1998 2012
dbSNP: rs199473161
rs199473161
SCN5A
1.000 0.080 3 38586038 missense variant G/A;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 4 2005 2014