NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Neurofibromatoses ×
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: 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: 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: rs137854550
rs137854550 		0.790 0.360 17 31258500 missense variant A/C;G snv
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1555533285
rs1555533285 		1.000 0.080 17 31325859 stop gained C/G snv
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1555534929
rs1555534929 		1.000 0.080 17 31337882 splice donor variant T/- del
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1555618516
rs1555618516 		0.925 0.080 17 31258405 missense variant G/C snv
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1555619056
rs1555619056 		0.925 0.160 17 31261858 splice donor variant G/A;C snv
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs267606600
rs267606600 		1.000 0.120 17 31219018 frameshift variant AG/- del 1.4E-05
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs397514641
rs397514641 		0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs866445127
rs866445127 		0.851 0.240 17 31352348 stop gained C/T snv
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
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: 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