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: rs2494740
rs2494740
AKT1
0.925 0.080 14 104781544 intron variant A/T snv 0.61
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2494744
rs2494744
AKT1
0.925 0.080 14 104789477 intron variant A/G snv 0.83
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2494744
rs2494744
AKT1
0.925 0.080 14 104789477 intron variant A/G snv 0.83
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs2494746
rs2494746
AKT1
1.000 0.080 14 104791382 intron variant C/G snv 0.77
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2017 2017
dbSNP: rs2494750
rs2494750
AKT1
0.925 0.080 14 104796575 upstream gene variant G/C snv 0.86
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 < 0.001 1 2015 2015
dbSNP: rs2494750
rs2494750
AKT1
0.925 0.080 14 104796575 upstream gene variant G/C snv 0.86
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 < 0.001 1 2015 2015
dbSNP: rs2494752
rs2494752
AKT1
0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2494752
rs2494752
AKT1
0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2016 2016
dbSNP: rs2494752
rs2494752
AKT1
0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2016 2016
dbSNP: rs2494752
rs2494752
AKT1
0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2494752
rs2494752
AKT1
0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2018 2018
dbSNP: rs2494752
rs2494752
AKT1
0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs2494752
rs2494752
AKT1
0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2494752
rs2494752
AKT1
0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2498786
rs2498786
AKT1
0.925 0.160 14 104796031 upstream gene variant C/G snv 0.50
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2015 2015
dbSNP: rs2498786
rs2498786
AKT1
0.925 0.160 14 104796031 upstream gene variant C/G snv 0.50
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2015 2015
dbSNP: rs2498789
rs2498789
AKT1
0.925 0.080 14 104783708 intron variant A/G snv 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs2498789
rs2498789
AKT1
0.925 0.080 14 104783708 intron variant A/G snv 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2498794
rs2498794
AKT1
14 104778914 intron variant A/G snv 0.54
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs2498794
rs2498794
AKT1
14 104778914 intron variant A/G snv 0.54
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs2498796
rs2498796
AKT1
1.000 0.080 14 104776883 non coding transcript exon variant G/A snv 0.33
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs2498799
rs2498799
AKT1
0.925 0.040 14 104773557 synonymous variant C/T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2016 2016
dbSNP: rs2498799
rs2498799
AKT1
0.925 0.040 14 104773557 synonymous variant C/T snv
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.010 1.000 1 2016 2016
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2018 2018
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2012 2012