NODAL, nodal growth differentiation factor, 4838

N. diseases: 89; N. variants: 12
Disease: Heterotaxy 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: rs121909283
rs121909283 		0.882 0.120 10 70435399 stop gained C/A;T snv 3.1E-04
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs555563029
rs555563029 		1.000 0.120 10 70435353 missense variant C/T snv 4.0E-06
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0