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: rs1060500122
rs1060500122
PTEN
1.000 0.080 10 87933204 stop gained C/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1114167624
rs1114167624
PTEN
1.000 0.080 10 87961120 splice donor variant T/C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1114167640
rs1114167640
PTEN
0.790 0.160 10 87961067 stop gained TGACAAAGCAAATA/CGCTT delins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs121909227
rs121909227
PTEN
0.776 0.240 10 87957858 stop gained C/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs121909228
rs121909228
PTEN
0.790 0.160 10 87957984 stop gained G/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs121909241
rs121909241
PTEN
0.790 0.160 10 87933154 missense variant G/A;T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1224040268
rs1224040268
PTEN
0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1554825165
rs1554825165
PTEN
0.790 0.160 10 87957872 stop gained C/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1554825530
rs1554825530
PTEN
0.790 0.160 10 87960957 frameshift variant -/CT;TTCT ins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1554825643
rs1554825643
PTEN
0.790 0.160 10 87961107 frameshift variant C/- delins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1554898083
rs1554898083
PTEN
0.790 0.160 10 87933057 frameshift variant -/T delins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1554898085
rs1554898085
PTEN
0.790 0.160 10 87933061 frameshift variant -/AAACC delins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1554898161
rs1554898161
PTEN
1.000 0.080 10 87933173 stop gained T/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1554898244
rs1554898244
PTEN
0.790 0.160 10 87933253 splice donor variant T/C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1564568689
rs1564568689
PTEN
1.000 0.080 10 87961112 frameshift variant T/- delins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs370795352
rs370795352
PTEN
0.742 0.360 10 87933163 missense variant T/A;C snv 4.0E-06
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs397515374
rs397515374
PTEN
0.790 0.160 10 87952159 stop gained TA/AT mnv
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: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs587776666
rs587776666
PTEN
0.790 0.160 10 87933106 frameshift variant ACAAT/- del
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs587776669
rs587776669
PTEN
0.790 0.160 10 87957914 frameshift variant A/- del
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs587776670
rs587776670
PTEN
0.790 0.160 10 87952211 frameshift variant C/- del 7.0E-06
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs587776671
rs587776671
PTEN ; KLLN
0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs587776672
rs587776672
PTEN
0.790 0.160 10 87960893 splice acceptor variant G/- delins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs587776673
rs587776673
PTEN
0.790 0.160 10 87952130 frameshift variant C/- delins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs587782607
rs587782607
PTEN
1.000 0.080 10 87960914 stop gained G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0