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: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		0.700 0
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0.700 0
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		0.700 0