MYRF, myelin regulatory factor, 745

N. diseases: 102; N. variants: 44
Disease: Congenital diaphragmatic hernia ×
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: rs1565286228
rs1565286228 		0.807 0.200 11 61766173 frameshift variant GCACCGGGCCCCCCATC/T delins
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0