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: rs35857561
rs35857561
0.925 0.160 11 10628820 missense variant G/A snv 5.6E-02 5.0E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2018 2018