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: rs137854607
rs137854607
SCN5A
0.882 0.120 3 38554309 missense variant C/G;T snv
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.800 1.000 0 2001 2013
dbSNP: rs137854607
rs137854607
SCN5A
0.882 0.120 3 38554309 missense variant C/G;T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 5 2002 2012
dbSNP: rs137854607
rs137854607
SCN5A
0.882 0.120 3 38554309 missense variant C/G;T snv
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.700 0