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: rs1085308042
rs1085308042
PTEN
0.882 0.120 10 87894076 missense variant G/A snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1085308042
rs1085308042
PTEN
0.882 0.120 10 87894076 missense variant G/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308042
rs1085308042
PTEN
0.882 0.120 10 87894076 missense variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308042
rs1085308042
PTEN
0.882 0.120 10 87894076 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0