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: rs2066845
rs2066845
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2009 2009