rs786202918, PTEN

N. diseases: 6
Source: INFERRED ×
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.925 0.080 10 87957951 stop gained C/T snv 4.0E-06 0.700 1.000 2 1998 2006
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.925 0.080 10 87957951 stop gained C/T snv 4.0E-06 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
0.925 0.080 10 87957951 stop gained C/T snv 4.0E-06 0.700 0
Penile freckling
CUI: C4531112
Disease: Penile freckling
0.925 0.080 10 87957951 stop gained C/T snv 4.0E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.925 0.080 10 87957951 stop gained C/T snv 4.0E-06 0.700 0
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.925 0.080 10 87957951 stop gained C/T snv 4.0E-06 0.700 0