NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Plexiform Neurofibroma ×
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: 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: rs1057519369
rs1057519369 		0.790 0.280 17 31340532 frameshift variant -/G delins
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1057519370
rs1057519370 		0.882 0.120 17 31159091 splice donor variant G/- delins
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1555535032
rs1555535032 		0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		Neoplasms; Nervous System Diseases 0.700 0