SEMA3A, semaphorin 3A, 10371

N. diseases: 202; N. variants: 19
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: rs11766001
rs11766001 		1.000 0.080 7 84515886 intergenic variant A/C snv 0.11
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7804122
rs7804122 		0.925 0.120 7 84005397 synonymous variant A/G snv 0.24 0.24
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs797821
rs797821 		1.000 0.080 7 83961536 synonymous variant T/C snv 0.62 0.58
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2012 2012