rs1555535032, NF1

N. diseases: 9
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.
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.882 0.120 17 31338734 frameshift variant TTAC/- delins 0.700 1.000 4 1995 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.120 17 31338734 frameshift variant TTAC/- delins 0.700 1.000 2 1995 2007
Axillary freckling
CUI: C1860335
Disease: Axillary freckling
12 0.882 0.120 17 31338734 frameshift variant TTAC/- delins 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.882 0.120 17 31338734 frameshift variant TTAC/- delins 0.700 0
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
7 0.882 0.120 17 31338734 frameshift variant TTAC/- delins 0.700 0
Inguinal freckling
CUI: C1834297
Disease: Inguinal freckling
7 0.882 0.120 17 31338734 frameshift variant TTAC/- delins 0.700 0
Lisch nodules
CUI: C1860334
Disease: Lisch nodules
5 0.882 0.120 17 31338734 frameshift variant TTAC/- delins 0.700 0
Plexiform Neurofibroma
CUI: C0206728
Disease: Plexiform Neurofibroma
5 0.882 0.120 17 31338734 frameshift variant TTAC/- delins 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.120 17 31338734 frameshift variant TTAC/- delins 0.700 0