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: rs727504801
rs727504801
SCN5A
0.925 0.080 3 38560397 frameshift variant G/- delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 5 1998 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: rs727504801
rs727504801
SCN5A
0.925 0.080 3 38560397 frameshift variant G/- delins
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0