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: rs28939668
rs28939668
JAG1
0.807 0.200 20 10652533 missense variant C/T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.830 1.000 2 2001 2010
dbSNP: rs769531968
rs769531968
JAG1
0.925 0.120 20 10643807 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 1.000 2 2001 2010