Source: CLINVAR

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: rs1554893835
rs1554893835
PTEN
0.827 0.240 10 87894110 splice donor variant G/C;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0