RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Aganglionosis, Colonic ×
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: rs77316810
rs77316810 		0.776 0.200 10 43113654 missense variant T/A;C;G snv
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs77702891
rs77702891 		0.925 0.080 10 43106446 missense variant G/A;T snv 1.2E-04
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs9282834
rs9282834 		0.882 0.080 10 43111408 missense variant G/A snv 2.3E-03 6.6E-04
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2013 2013