NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Gastrointestinal Stromal Tumors ×
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: rs1555534379
rs1555534379 		1.000 0.120 17 31334856 frameshift variant T/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs267606600
rs267606600 		1.000 0.120 17 31219018 frameshift variant AG/- del 1.4E-05
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0