Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11080149
rs11080149
NF1 ; OMG
1 1.000 0.040 17 31296270 missense variant C/T snv 9.1E-02 8.2E-02 0.010 1.000 1 2007 2007