NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
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: rs760703505
rs760703505 		0.882 0.200 17 31261733 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.710 1.000 7 1997 2019
dbSNP: rs1801052
rs1801052 		1.000 0.120 17 31181757 synonymous variant G/A;T snv 0.63
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs199474747
rs199474747 		0.925 0.120 17 31229155 missense variant T/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.800 1.000 32 1990 2018
dbSNP: rs137854566
rs137854566 		1.000 0.120 17 31229146 missense variant T/C;G snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.800 1.000 28 1990 2018
dbSNP: rs199474750
rs199474750 		1.000 0.120 17 31258502 missense variant G/A;C;T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.810 1.000 22 1990 2018
dbSNP: rs1060500368
rs1060500368 		1.000 0.120 17 31229157 missense variant G/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.710 1.000 6 2003 2018
dbSNP: rs1555534966
rs1555534966 		1.000 0.120 17 31338142 splice region variant A/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 4 2003 2018
dbSNP: rs771820789
rs771820789 		1.000 0.120 17 31229324 synonymous variant G/A;T snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 4 2007 2018
dbSNP: rs1060500254
rs1060500254 		1.000 0.120 17 31229148 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 3 2014 2018
dbSNP: rs1555614229
rs1555614229 		1.000 0.120 17 31229152 missense variant C/A snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs199474743
rs199474743 		1.000 0.120 17 31260403 missense variant A/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.800 1.000 24 1990 2017
dbSNP: rs786201367
rs786201367 		0.827 0.280 17 31357308 stop gained C/T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 11 1995 2017
dbSNP: rs397514641
rs397514641 		0.827 0.320 17 31169985 stop gained C/T 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 0.700 1.000 7 2000 2017
dbSNP: rs1187097568
rs1187097568 		1.000 0.120 17 31232830 missense variant A/G snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 2007 2017
dbSNP: rs786201874
rs786201874 		1.000 0.120 17 31169906 frameshift variant TGTT/- delins
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 1999 2017
dbSNP: rs876657715
rs876657715 		1.000 0.120 17 31338737 stop gained -/A delins
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 5 1996 2017
dbSNP: rs1064794274
rs1064794274 		1.000 0.120 17 31221866 missense variant A/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 4 2007 2017
dbSNP: rs1555606053
rs1555606053 		1.000 0.120 17 31163208 frameshift variant TA/- del
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 3 2004 2017
dbSNP: rs1555612288
rs1555612288 		1.000 0.120 17 31214554 missense variant T/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs1567615941
rs1567615941 		1.000 0.120 17 31335029 stop gained C/T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 2 2011 2017
dbSNP: rs1135402850
rs1135402850 		1.000 0.120 17 31235736 missense variant C/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs137854556
rs137854556 		0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.800 1.000 37 1990 2016
dbSNP: rs137854550
rs137854550 		0.790 0.360 17 31258500 missense variant A/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.800 1.000 34 1990 2016
dbSNP: rs199474760
rs199474760 		1.000 0.120 17 31223470 missense variant A/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.800 1.000 31 1990 2016
dbSNP: rs199474732
rs199474732 		1.000 0.120 17 31233115 missense variant C/G;T snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.800 1.000 29 1990 2016