rs1554893835, PTEN

N. diseases: 8
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 1.000 2 2001 2014
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0
Penile freckling
CUI: C4531112
Disease: Penile freckling
11 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0