Source: CURATED

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: rs786201044
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.710 0.857 7 2000 2013
dbSNP: rs786201044
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2000 2014
dbSNP: rs786201044
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 6 2000 2014
dbSNP: rs786201044
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv
CUI: C1334655
Disease: Mediastinal Germ Cell Tumor
Mediastinal Germ Cell Tumor 		0.700 0
dbSNP: rs786201044
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		0.700 0
dbSNP: rs786201044
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0