Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909238
rs121909238
PTEN
0.925 0.240 10 87933037 missense variant A/C;G snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.800 1.000 3 2005 2015