Disease: Conotruncal defect ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4764267
rs4764267 		1.000 12 16370646 intron variant T/G snv 0.66
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2020 2020