NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL ×
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: rs886041347
rs886041347 		0.790 0.320 17 31229061 stop gained C/T snv
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0