PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060500126
rs1060500126 		0.790 0.160 10 87933223 missense variant A/C;G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2001 2015
dbSNP: rs121909231
rs121909231 		0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2001 2015
dbSNP: rs1554898088
rs1554898088 		1.000 10 87933066 frameshift variant CC/-;C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs1554898088
rs1554898088 		1.000 10 87933066 frameshift variant CC/-;C delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2001 2015
dbSNP: rs786201041
rs786201041 		0.776 0.160 10 87961119 splice donor variant G/A;C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs786204929
rs786204929 		0.752 0.200 10 87933144 stop gained G/A;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs876659443
rs876659443 		0.925 0.080 10 87894048 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs886041877
rs886041877 		1.000 10 87894025 missense variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs1064793345
rs1064793345 		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: rs121909218
rs121909218 		0.672 0.360 10 87933145 missense variant G/A snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 1.000 2 2002 2004
dbSNP: rs1114167628
rs1114167628 		0.925 0.080 10 87961033 stop gained -/ATATCTAG delins
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2013 2013
dbSNP: rs121909222
rs121909222 		0.742 0.240 10 87933127 missense variant A/G snv
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs121909235
rs121909235 		0.851 0.240 10 87957919 missense variant G/A snv
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
GLIOMA SUSCEPTIBILITY 2 		0.700 1.000 1 2002 2002
dbSNP: rs12242772
rs12242772 		10 87944637 intron variant A/G snv 3.0E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12242772
rs12242772 		10 87944637 intron variant A/G snv 3.0E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12242772
rs12242772 		10 87944637 intron variant A/G snv 3.0E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1234214
rs1234214 		10 87938433 intron variant C/A snv 0.34
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2299941
rs2299941 		0.882 0.080 10 87944962 intron variant A/G snv 9.7E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018
dbSNP: rs2735343
rs2735343 		0.790 0.240 10 87945672 non coding transcript exon variant G/C snv 0.39
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018
dbSNP: rs3831732
rs3831732 		10 87895485 intron variant -/A;AA delins
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs3831732
rs3831732 		10 87895485 intron variant -/A;AA delins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs562015640
rs562015640 		0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 1.000 1 2011 2011
dbSNP: rs59085061
rs59085061 		10 87921701 intron variant A/G snv 5.2E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs741804
rs741804 		10 87896399 intron variant A/C snv 3.6E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2018 2018
dbSNP: rs77413490
rs77413490 		10 87921931 intron variant G/A;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019