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: rs1029342144
rs1029342144
PTEN ; KLLN
0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2005 2005
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2012 2012
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2005 2005
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2011 2011
dbSNP: rs10490920
rs10490920
PTEN
1.000 0.080 10 87925886 intron variant T/C snv 0.14
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1064793345
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.010 1.000 1 2004 2004
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: rs1085308048
rs1085308048
PTEN
0.851 0.320 10 87933175 stop gained T/G snv
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.010 1.000 1 1998 1998
dbSNP: rs1114167628
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs1114167628
rs1114167628
PTEN
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: rs1114167628
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs1114167628
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
dbSNP: rs1114167651
rs1114167651
PTEN
1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.010 1.000 1 2007 2007
dbSNP: rs1114167651
rs1114167651
PTEN
1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs11202592
rs11202592
PTEN ; KLLN
0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2013 2013
dbSNP: rs11202592
rs11202592
PTEN ; KLLN
0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 < 0.001 1 2013 2013
dbSNP: rs11202592
rs11202592
PTEN ; KLLN
0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 < 0.001 1 2013 2013
dbSNP: rs11202592
rs11202592
PTEN ; KLLN
0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 < 0.001 1 2013 2013
dbSNP: rs11202592
rs11202592
PTEN ; KLLN
0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs11202607
rs11202607
PTEN
1.000 0.080 10 87967657 3 prime UTR variant C/T snv 6.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1197734477
rs1197734477
PTEN
0.925 0.080 10 87961012 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1197734477
rs1197734477
PTEN
0.925 0.080 10 87961012 missense variant A/G snv
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1197734477
rs1197734477
PTEN
0.925 0.080 10 87961012 missense variant A/G snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2017 2017
dbSNP: rs1197734477
rs1197734477
PTEN
0.925 0.080 10 87961012 missense variant A/G snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2017 2017