Source: UNIPROT

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: rs137854618
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.800 1.000 2 2004 2013
dbSNP: rs137854618
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 21 1998 2016
dbSNP: rs137854618
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.700 1.000 6 2001 2013
dbSNP: rs137854618
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06
CUI: C4551959
Disease: ATRIAL STANDSTILL 1
ATRIAL STANDSTILL 1 		0.700 1.000 2 2003 2013