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: rs1114167651
rs1114167651
PTEN
1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.010 1.000 1 2007 2007
dbSNP: rs1114167651
rs1114167651
PTEN
1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 1.000 1 2007 2007