Disease: Beckwith-Wiedemann Syndrome ×
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: rs863224905
rs863224905 		0.925 0.040 5 177269601 splice acceptor variant G/C snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2003 2005
dbSNP: rs886039579
rs886039579 		1.000 0.040 5 177280835 splice donor variant G/A;T snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2003 2005