Source: CLINVAR

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: rs1064793345
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 2 2012 2012
dbSNP: rs1085308039
rs1085308039
PTEN
0.925 0.080 10 87933075 stop gained G/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308040
rs1085308040
PTEN
0.851 0.200 10 87961096 missense variant G/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308041
rs1085308041
PTEN
0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308042
rs1085308042
PTEN
0.882 0.120 10 87894076 missense variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308043
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308044
rs1085308044
PTEN ; KLLN
0.882 0.120 10 87864504 missense variant A/C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
0.827 0.160 10 87864509 missense variant A/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308048
rs1085308048
PTEN
0.851 0.320 10 87933175 stop gained T/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308049
rs1085308049
PTEN
0.925 0.080 10 87957885 stop gained A/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308050
rs1085308050
PTEN
0.827 0.160 10 87933178 frameshift variant -/A delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308051
rs1085308051
PTEN
0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308052
rs1085308052
PTEN
0.851 0.160 10 87952144 frameshift variant -/T delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308053
rs1085308053
PTEN
0.882 0.080 10 87952230 missense variant C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308054
rs1085308054
PTEN
0.827 0.160 10 87952231 frameshift variant AT/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308055
rs1085308055
PTEN
0.882 0.120 10 87952240 frameshift variant TCAGT/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308056
rs1085308056
PTEN
0.851 0.160 10 87957850 splice region variant C/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs121909218
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs121909219
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs121909224
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs121913294
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0