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: rs397514449
rs397514449
SCN5A
0.925 0.120 3 38550984 protein altering variant -/CAT delins
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		0.700 0