NF2, neurofibromin 2, 4771

N. diseases: 312; N. variants: 54
Disease: Neoplasms ×
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: rs147506929
rs147506929 		22 29678208 missense variant A/C;G snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 1995 1995
dbSNP: rs74315496
rs74315496 		1.000 0.160 22 29661313 stop gained C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012