AKT1, AKT serine/threonine kinase 1, 207

N. diseases: 1250; N. variants: 33
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: rs121434592
rs121434592
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.770 1.000 7 2008 2019
dbSNP: rs2494740
rs2494740
0.925 0.080 14 104781544 intron variant A/T snv 0.61
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2494744
rs2494744
0.925 0.080 14 104789477 intron variant A/G snv 0.83
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2494752
rs2494752
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
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2498789
rs2498789
0.925 0.080 14 104783708 intron variant A/G snv 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3730358
rs3730358
0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3803304
rs3803304
0.882 0.160 14 104772809 intron variant C/G snv 0.24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018