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: rs199473604
rs199473604
SCN5A
0.882 0.120 3 38560394 missense variant G/T snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.710 1.000 2 2008 2009
dbSNP: rs199473604
rs199473604
SCN5A
0.882 0.120 3 38560394 missense variant G/T snv
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 1.000 20 1995 2015