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: rs120074193
rs120074193 		0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs12720458
rs12720458 		0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs17221854
rs17221854 		0.807 0.120 11 2777990 missense variant C/T snv 1.6E-05
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs199472709
rs199472709 		0.790 0.120 11 2572021 missense variant G/A;T snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs199472795
rs199472795 		0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs397508097
rs397508097 		0.807 0.120 11 2768917 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0