GFRA1, GDNF family receptor alpha 1, 2674

N. diseases: 73; N. variants: 10
Disease: Hirschsprung Disease ×
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: rs11197571
rs11197571 		1.000 0.080 10 116183122 intron variant A/G snv 0.13
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009