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: 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
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs2494732
rs2494732
AKT1
0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C0001726
Disease: Affective Symptoms
Affective Symptoms 		0.010 1.000 1 2012 2012
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: 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: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2020 2020
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2020 2020
dbSNP: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2010 2010
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs61759760
rs61759760
AKT1
14 104789850 intron variant C/T snv 0.31
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 1.000 6 2013 2019
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: 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: 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: rs3730358
rs3730358
AKT1
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs3803304
rs3803304
AKT1
0.882 0.160 14 104772809 intron variant C/G snv 0.24
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0006625
Disease: Cachexia
Cachexia 		0.010 1.000 1 2014 2014
dbSNP: rs2494732
rs2494732
AKT1
0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47
CUI: C3160814
Disease: Cannabis use
Cannabis use 		0.040 0.750 4 2011 2019
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 1.000 4 2008 2016
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: rs1130214
rs1130214
AKT1
0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2018 2018