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: rs398123316
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv
CUI: C4531112
Disease: Penile freckling
Penile freckling 		0.700 0
dbSNP: rs398123316
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs398123316
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv
CUI: C0027960
Disease: Nevus
Nevus 		0.700 0
dbSNP: rs398123316
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs398123316
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs398123316
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs398123316
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs398123316
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		0.700 0
dbSNP: rs398123316
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017