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: rs786202782
rs786202782
0.925 0.120 17 31223476 frameshift variant ACTA/- delins
CUI: C0027830
Disease: neurofibroma
neurofibroma
Neoplasms; Nervous System Diseases 0.700 0
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: C0027830
Disease: neurofibroma
neurofibroma
Neoplasms; Nervous System Diseases 0.010 1.000 1 2015 2015