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: rs1057516197
rs1057516197 		1.000 0.120 17 31095323 frameshift variant G/- delins
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1057517848
rs1057517848 		1.000 0.120 17 31227294 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 0
dbSNP: rs1057517967
rs1057517967 		1.000 0.120 17 31181724 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs1057517967
rs1057517967 		1.000 0.120 17 31181724 stop gained G/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 2015 2015
dbSNP: rs1057518326
rs1057518326 		1.000 0.120 17 31325819 splice acceptor variant G/A;C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 2 2000 2013
dbSNP: rs1057518360
rs1057518360 		1.000 0.120 17 31181420 splice acceptor variant A/G;T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1057518792
rs1057518792 		1.000 0.080 17 31229024 splice acceptor variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 1999 2015
dbSNP: rs1057518792
rs1057518792 		1.000 0.080 17 31229024 splice acceptor variant G/A;C snv
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518807
rs1057518807 		0.882 0.200 17 31338788 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 4 1996 2016
dbSNP: rs1057518807
rs1057518807 		0.882 0.200 17 31338788 stop gained C/T snv
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
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: rs1057518842
rs1057518842 		1.000 0.080 17 31227215 splice region variant T/G snv
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518842
rs1057518842 		1.000 0.080 17 31227215 splice region variant T/G snv
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518842
rs1057518842 		1.000 0.080 17 31227215 splice region variant T/G snv
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518842
rs1057518842 		1.000 0.080 17 31227215 splice region variant T/G snv
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1057518842
rs1057518842 		1.000 0.080 17 31227215 splice region variant T/G snv
CUI: C1834297
Disease: Inguinal freckling
Inguinal freckling 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518884
rs1057518884 		1.000 0.120 17 31155990 frameshift variant T/- del
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1057518904
rs1057518904 		0.882 0.240 17 31221932 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 1994 2013
dbSNP: rs1057518904
rs1057518904 		0.882 0.240 17 31221932 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 6 1994 2015
dbSNP: rs1057518904
rs1057518904 		0.882 0.240 17 31221932 missense variant A/G snv
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma 		Neoplasms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518904
rs1057518904 		0.882 0.240 17 31221932 missense variant A/G snv
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1057518904
rs1057518904 		0.882 0.240 17 31221932 missense variant A/G snv
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518974
rs1057518974 		1.000 0.080 17 31334837 splice acceptor variant G/A snv
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1057518974
rs1057518974 		1.000 0.080 17 31334837 splice acceptor variant G/A snv
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518974
rs1057518974 		1.000 0.080 17 31334837 splice acceptor variant G/A snv
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		Skin and Connective Tissue Diseases 0.700 0