NF2, neurofibromin 2, 4771

N. diseases: 312; N. variants: 54
Disease: Sarcoma, Spindle Cell ×
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: rs1569294187
rs1569294187 		1.000 0.040 22 29655657 frameshift variant CACCGAG/- delins
CUI: C0205945
Disease: Sarcoma, Spindle Cell
Sarcoma, Spindle Cell 		Neoplasms 0.700 0