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: rs45620037
rs45620037
SCN5A
0.882 0.120 3 38613787 missense variant G/A snv 6.6E-04 6.6E-04
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE 		0.800 0
dbSNP: rs45620037
rs45620037
SCN5A
0.882 0.120 3 38613787 missense variant G/A snv 6.6E-04 6.6E-04
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.700 1.000 1 2013 2013