rs1057519370, NF1

N. diseases: 7
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.
Axillary freckling
CUI: C1860335
Disease: Axillary freckling
12 0.882 0.120 17 31159091 splice donor variant G/- delins 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.882 0.120 17 31159091 splice donor variant G/- delins 0.700 0
Inguinal freckling
CUI: C1834297
Disease: Inguinal freckling
7 0.882 0.120 17 31159091 splice donor variant G/- delins 0.700 0
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.882 0.120 17 31159091 splice donor variant G/- delins 0.700 0
Neurofibrosarcoma
CUI: C0206729
Disease: Neurofibrosarcoma
13 0.882 0.120 17 31159091 splice donor variant G/- delins 0.700 0
Plexiform Neurofibroma
CUI: C0206728
Disease: Plexiform Neurofibroma
5 0.882 0.120 17 31159091 splice donor variant G/- delins 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.120 17 31159091 splice donor variant G/- delins 0.700 0