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: rs587782343
rs587782343
PTEN
0.851 0.200 10 87933073 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 20 1997 2008
dbSNP: rs587782360
rs587782360
PTEN
0.851 0.280 10 87933162 missense variant A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 20 1997 2008
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.820 1.000 23 1997 2015
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.810 1.000 23 1997 2017
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: 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: 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: 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