NF2, neurofibromin 2, 4771

N. diseases: 312; N. variants: 54
Disease: Ependymoma ×
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: rs1555993293
rs1555993293 		1.000 0.040 22 29655628 stop gained G/A snv
CUI: C0014474
Disease: Ependymoma
Ependymoma 		Neoplasms 0.700 0