rs1085308039, PTEN

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hematochezia
CUI: C0018932
Disease: Hematochezia
12 0.925 0.080 10 87933075 stop gained G/T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.925 0.080 10 87933075 stop gained G/T snv 0.700 0
Nevus
CUI: C0027960
Disease: Nevus
43 0.925 0.080 10 87933075 stop gained G/T snv 0.700 0
Penile freckling
CUI: C4531112
Disease: Penile freckling
11 0.925 0.080 10 87933075 stop gained G/T snv 0.700 0
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.925 0.080 10 87933075 stop gained G/T snv 0.700 0
Soft tissue mass
CUI: C0457193
Disease: Soft tissue mass
1 0.925 0.080 10 87933075 stop gained G/T snv 0.700 0