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: rs12720452
rs12720452
SCN5A
0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04
CUI: C1858430
Disease: Death in infancy
Death in infancy 		0.700 1.000 1 2016 2016
dbSNP: rs12720452
rs12720452
SCN5A
0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		0.700 1.000 1 2016 2016