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: rs11080149
rs11080149 		1.000 0.040 17 31296270 missense variant C/T snv 9.1E-02 8.2E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs137854552
rs137854552 		0.807 0.280 17 31334927 stop gained C/T snv
CUI: C0432360
Disease: Neurofibromatosis type 5
Neurofibromatosis type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs137854561
rs137854561 		0.925 0.120 17 31336750 missense variant T/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 2001 2001
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: rs199474750
rs199474750 		1.000 0.120 17 31258502 missense variant G/A;C;T snv
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs768366978
rs768366978 		0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs768366978
rs768366978 		0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs768366978
rs768366978 		0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs768366978
rs768366978 		0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06
CUI: C3887608
Disease: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 		0.010 1.000 1 2012 2012
dbSNP: rs768366978
rs768366978 		0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs768638173
rs768638173 		0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs777369021
rs777369021 		1.000 0.120 17 31200538 synonymous variant T/C snv 8.4E-05 1.0E-04
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs786202112
rs786202112 		0.827 0.280 17 31327839 missense variant G/A snv
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs786202457
rs786202457 		0.882 0.120 17 31350209 stop gained C/T snv
CUI: C0027830
Disease: neurofibroma
neurofibroma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs797045139
rs797045139 		0.882 0.120 17 31327718 missense variant C/A;G;T snv
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs797045139
rs797045139 		0.882 0.120 17 31327718 missense variant C/A;G;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2015 2015
dbSNP: rs797045139
rs797045139 		0.882 0.120 17 31327718 missense variant C/A;G;T snv
CUI: C0027830
Disease: neurofibroma
neurofibroma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs866445127
rs866445127 		0.851 0.240 17 31352348 stop gained C/T snv
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs866445127
rs866445127 		0.851 0.240 17 31352348 stop gained C/T snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs866445127
rs866445127 		0.851 0.240 17 31352348 stop gained C/T snv
CUI: C3887608
Disease: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 		0.010 1.000 1 2012 2012
dbSNP: rs866445127
rs866445127 		0.851 0.240 17 31352348 stop gained C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs876657714
rs876657714 		0.882 0.200 17 31327535 stop gained C/T snv
CUI: C0013592
Disease: Ectropion
Ectropion 		Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs876657714
rs876657714 		0.882 0.200 17 31327535 stop gained C/T snv
CUI: C0423325
Disease: Ectropion uveae
Ectropion uveae 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs886041347
rs886041347 		0.790 0.320 17 31229061 stop gained C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.020 1.000 2 1998 2003
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