Disease: Neurofibromatosis 1 ×
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: rs35690297
rs35690297 		1.000 0.120 7 6002584 start lost T/A;C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs587779333
rs587779333 		0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs786202567
rs786202567 		1.000 0.120 7 5992027 missense variant T/A;C snv 4.0E-06 1.4E-05
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2009 2009