NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
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: rs1064794276
rs1064794276 		0.925 0.120 17 31235639 frameshift variant TTTG/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017
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: rs137854562
rs137854562 		0.925 0.120 17 31235623 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 34 1967 2017
dbSNP: rs137854562
rs137854562 		0.925 0.120 17 31235623 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017
dbSNP: rs137854562
rs137854562 		0.925 0.120 17 31235623 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 34 1967 2017
dbSNP: rs1555533842
rs1555533842 		1.000 17 31330303 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 34 1967 2017
dbSNP: rs1555533842
rs1555533842 		1.000 17 31330303 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017
dbSNP: rs1555533842
rs1555533842 		1.000 17 31330303 frameshift variant -/C delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 34 1967 2017
dbSNP: rs1555534380
rs1555534380 		1.000 17 31334860 stop gained T/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017
dbSNP: rs1555535052
rs1555535052 		1.000 17 31338798 frameshift variant -/TA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017
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: 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: rs199474745
rs199474745 		1.000 0.120 17 31227527 missense variant G/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.800 1.000 28 1990 2016
dbSNP: rs199474756
rs199474756 		1.000 0.120 17 31181482 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.800 1.000 27 1990 2016
dbSNP: rs199474758
rs199474758 		1.000 0.120 17 31221854 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.800 1.000 26 1990 2014
dbSNP: rs199474762
rs199474762 		1.000 0.120 17 31227254 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 26 1990 2014
dbSNP: rs199474785
rs199474785 		1.000 0.120 17 31229145 missense variant C/T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.800 1.000 26 1990 2016
dbSNP: rs137854553
rs137854553 		1.000 0.120 17 31230373 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 25 1990 2014
dbSNP: rs137854554
rs137854554 		1.000 0.120 17 31258406 missense variant A/T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.800 1.000 25 1990 2016
dbSNP: rs199474786
rs199474786 		1.000 0.120 17 31229308 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.800 1.000 25 1990 2014
dbSNP: rs137854551
rs137854551 		1.000 0.120 17 31337430 missense variant C/A 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 2014
dbSNP: rs137854558
rs137854558 		1.000 0.120 17 31214581 missense variant T/C 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 2014
dbSNP: rs137854563
rs137854563 		0.925 0.120 17 31201044 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 24 1990 2014
dbSNP: rs199474737
rs199474737 		1.000 0.120 17 31219072 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 24 1990 2014
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