Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786201041
rs786201041
PTEN
0.776 0.160 10 87961119 splice donor variant G/A;C snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs786203847
rs786203847
PTEN
0.790 0.160 10 87925512 splice acceptor variant G/A;C snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs863224909
rs863224909
PTEN
0.732 0.360 10 87960952 stop gained C/A;G snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 1 2017 2017