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: rs1130233
rs1130233
AKT1
0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2015 2015
dbSNP: rs1130233
rs1130233
AKT1
0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0346429
Disease: Multiple malignancy
Multiple malignancy 		0.010 1.000 1 2015 2015
dbSNP: rs1130233
rs1130233
AKT1
0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs1130233
rs1130233
AKT1
0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1130233
rs1130233
AKT1
0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2018 2018
dbSNP: rs1130233
rs1130233
AKT1
0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2018 2018
dbSNP: rs1130233
rs1130233
AKT1
0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 1.000 1 2014 2014
dbSNP: rs1130233
rs1130233
AKT1
0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs11847866
rs11847866
AKT1
1.000 0.040 14 104788868 intron variant G/A snv 0.30
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 < 0.001 1 2010 2010
dbSNP: rs1200003171
rs1200003171
AKT1
0.882 0.120 14 104775122 missense variant C/A;T snv 8.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2009 2009
dbSNP: rs1200003171
rs1200003171
AKT1
0.882 0.120 14 104775122 missense variant C/A;T snv 8.0E-06
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2009 2009
dbSNP: rs1200003171
rs1200003171
AKT1
0.882 0.120 14 104775122 missense variant C/A;T snv 8.0E-06
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2007 2007
dbSNP: rs1200003171
rs1200003171
AKT1
0.882 0.120 14 104775122 missense variant C/A;T snv 8.0E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.010 1.000 1 2017 2017
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C3282896
Disease: Glandular papilloma
Glandular papilloma 		0.010 1.000 1 2018 2018
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.010 1.000 1 2008 2008
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2017 2017
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C1710096
Disease: Sinonasal undifferentiated carcinoma
Sinonasal undifferentiated carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2010 2010
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2008 2008