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: rs730882131
rs730882131
PTEN
1.000 0.080 10 87957999 stop gained C/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs786204855
rs786204855
PTEN
1.000 0.080 10 87894084 missense variant A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs786204856
rs786204856
PTEN
0.882 0.120 10 87933043 missense variant C/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs786204858
rs786204858
PTEN
0.776 0.280 10 87933079 missense variant A/G;T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs786204859
rs786204859
PTEN
0.925 0.080 10 87933166 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs786204863
rs786204863
PTEN
1.000 0.080 10 87952119 missense variant G/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs863224909
rs863224909
PTEN
0.732 0.360 10 87960952 stop gained C/A;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs869312775
rs869312775
PTEN
0.925 0.120 10 87933103 missense variant A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs869312776
rs869312776
PTEN
1.000 0.080 10 87933167 missense variant T/C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs869312777
rs869312777
PTEN
0.925 0.120 10 87933245 missense variant C/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs869312778
rs869312778
PTEN
1.000 0.080 10 87894063 stop gained G/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs869312779
rs869312779
PTEN
1.000 0.080 10 87933183 frameshift variant C/- del
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs869312780
rs869312780
PTEN
0.925 0.120 10 87957983 frameshift variant AG/- delins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1085308048
rs1085308048
PTEN
0.851 0.320 10 87933175 stop gained T/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.010 1.000 1 1998 1998
dbSNP: rs1554898053
rs1554898053
PTEN
1.000 0.080 10 87933018 stop gained C/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 1 1998 1998
dbSNP: rs786204928
rs786204928
PTEN
1.000 0.080 10 87933048 stop gained C/G;T snv 7.0E-06
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 1 1999 1999
dbSNP: rs762518389
rs762518389
PTEN
0.925 0.080 10 87894089 missense variant C/A;G;T snv 4.0E-06
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.010 1.000 1 2003 2003
dbSNP: rs562015640
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.710 1.000 21 1997 2008
dbSNP: rs121909222
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.800 1.000 20 1997 2008
dbSNP: rs121909229
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.800 1.000 20 1997 2008
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: 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
dbSNP: rs398123314
rs398123314
PTEN
1.000 0.080 10 87961118 missense variant G/A;C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 20 1997 2008
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