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: 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: 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: 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