PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Macrocephaly ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909219
rs121909219 		0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs794729664
rs794729664 		0.925 0.240 10 87952170 stop gained T/A;C;G snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9651492
rs9651492 		0.882 0.160 10 87933216 missense variant G/A;C snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007