rs121909238, PTEN

N. diseases: 2
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.
MACROCEPHALY/AUTISM SYNDROME
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
21 0.925 0.240 10 87933037 missense variant A/C;G snv 0.800 1.000 3 2005 2015
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.925 0.240 10 87933037 missense variant A/C;G snv 0.700 1.000 9 2005 2018