Source: UNIPROT

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: rs121909221
rs121909221
PTEN
0.790 0.160 10 87952135 missense variant T/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.800 1.000 23 1997 2015
dbSNP: rs398123317
rs398123317
PTEN
0.790 0.160 10 87925550 missense variant T/A;C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.800 1.000 23 1997 2015
dbSNP: rs786202398
rs786202398
PTEN
0.925 0.080 10 87925518 stop gained T/A;G snv
CUI: C0017638
Disease: Glioma
Glioma 		0.700 0
dbSNP: rs121909226
rs121909226
PTEN
0.790 0.160 10 87925557 missense variant T/C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.800 1.000 23 1997 2015
dbSNP: rs121909230
rs121909230
PTEN
0.925 0.080 10 87933094 missense variant T/C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 20 1997 2008
dbSNP: rs121909240
rs121909240
PTEN
0.925 0.240 10 87957940 missense variant T/C snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.800 1.000 3 2005 2015
dbSNP: rs121909223
rs121909223
PTEN
0.790 0.160 10 87933129 missense variant T/C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.800 1.000 23 1997 2015
dbSNP: rs121909225
rs121909225
PTEN
0.790 0.160 10 87894049 missense variant T/C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.800 1.000 23 1997 2015
dbSNP: rs1554825652
rs1554825652
PTEN
1.000 0.080 10 87961113 missense variant T/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 20 1997 2008