NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Lisch nodules ×
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: rs1057519369
rs1057519369 		0.790 0.280 17 31340532 frameshift variant -/G delins
CUI: C1860334
Disease: Lisch nodules
Lisch nodules 		0.700 0
dbSNP: rs1555535032
rs1555535032 		0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C1860334
Disease: Lisch nodules
Lisch nodules 		0.700 0
dbSNP: rs1555535403
rs1555535403 		1.000 0.120 17 31343021 inframe deletion TATTTATGGCAATCCGGAATCCTCTGG/- delins
CUI: C1860334
Disease: Lisch nodules
Lisch nodules 		0.700 0
dbSNP: rs786202457
rs786202457 		0.882 0.120 17 31350209 stop gained C/T snv
CUI: C1860334
Disease: Lisch nodules
Lisch nodules 		0.700 0
dbSNP: rs886041347
rs886041347 		0.790 0.320 17 31229061 stop gained C/T snv
CUI: C1860334
Disease: Lisch nodules
Lisch nodules 		0.700 0