Source: ALL
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: rs398123318
rs398123318
PTEN
9 0.776 0.240 10 87925558 splice region variant AGTA/- delins 0.700 1.000 1 2017 2017