rs1057519369, NF1

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
59 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
Axillary freckling
CUI: C1860335
Disease: Axillary freckling
12 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
Inguinal freckling
CUI: C1834297
Disease: Inguinal freckling
7 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
Lisch nodules
CUI: C1860334
Disease: Lisch nodules
5 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
Optic Nerve Glioma
CUI: C0346326
Disease: Optic Nerve Glioma
9 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
Plexiform Neurofibroma
CUI: C0206728
Disease: Plexiform Neurofibroma
5 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
Specific learning disability
CUI: C4025790
Disease: Specific learning disability
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
Spinal neurofibromas
CUI: C4024217
Disease: Spinal neurofibromas
2 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0