NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Neurofibroma of subcutaneous tissue ×
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: rs1057518807
rs1057518807 		0.882 0.200 17 31338788 stop gained C/T snv
CUI: C1827970
Disease: Neurofibroma of subcutaneous tissue
Neurofibroma of subcutaneous tissue 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs760703505
rs760703505 		0.882 0.200 17 31261733 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1827970
Disease: Neurofibroma of subcutaneous tissue
Neurofibroma of subcutaneous tissue 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs786202457
rs786202457 		0.882 0.120 17 31350209 stop gained C/T snv
CUI: C1827970
Disease: Neurofibroma of subcutaneous tissue
Neurofibroma of subcutaneous tissue 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0