rs398123316, PTEN

N. diseases: 9
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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.160 10 87925530 missense variant A/G;T snv 0.700 0
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.851 0.160 10 87925530 missense variant A/G;T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.851 0.160 10 87925530 missense variant A/G;T snv 0.700 0
Learning difficulties
CUI: C0424939
Disease: Learning difficulties
6 0.851 0.160 10 87925530 missense variant A/G;T snv 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.160 10 87925530 missense variant A/G;T snv 0.700 0
Nevus
CUI: C0027960
Disease: Nevus
43 0.851 0.160 10 87925530 missense variant A/G;T snv 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.851 0.160 10 87925530 missense variant A/G;T snv 0.700 0
Penile freckling
CUI: C4531112
Disease: Penile freckling
11 0.851 0.160 10 87925530 missense variant A/G;T snv 0.700 0
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.851 0.160 10 87925530 missense variant A/G;T snv 0.010 1.000 1 2017 2017