rs876660634, PTEN

N. diseases: 10
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 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 1.000 13 1997 2017
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 1.000 8 1998 2015
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0