BAX, BCL2 associated X, apoptosis regulator, 581

N. diseases: 420; N. variants: 9
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: rs1805419
rs1805419
19 48955847 intron variant A/G snv 0.67 0.66
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs4645881
rs4645881
19 48955005 non coding transcript exon variant C/G;T snv 0.83
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2016 2016
dbSNP: rs4645881
rs4645881
19 48955005 non coding transcript exon variant C/G;T snv 0.83
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1.000 1 2016 2016
dbSNP: rs398122513
rs398122513
1.000 0.120 19 48955799 missense variant G/A snv
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs398122840
rs398122840
0.925 0.160 19 48955714 frameshift variant GGGGGGG/-;GGGGGG;GGGGGGGG delins
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs398122840
rs398122840
0.925 0.160 19 48955714 frameshift variant GGGGGGG/-;GGGGGG;GGGGGGGG delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs4645878
rs4645878
0.882 0.120 19 48954681 upstream gene variant A/G snv 0.89
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment
Eye Diseases 0.020 1.000 2 2015 2017
dbSNP: rs1009316
rs1009316
1.000 0.080 19 48955313 non coding transcript exon variant T/C;G snv
Squamous cell carcinoma of esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1039312028
rs1039312028
1.000 0.120 19 48955724 missense variant G/A snv 1.4E-05
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs377294979
rs377294979
1.000 0.080 19 48961574 missense variant G/A;C snv 3.7E-05; 4.1E-06
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: rs4645878
rs4645878
0.882 0.120 19 48954681 upstream gene variant A/G snv 0.89
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs4645878
rs4645878
0.882 0.120 19 48954681 upstream gene variant A/G snv 0.89
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs4645878
rs4645878
0.882 0.120 19 48954681 upstream gene variant A/G snv 0.89
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4645878
rs4645878
0.882 0.120 19 48954681 upstream gene variant A/G snv 0.89
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy
Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs573226978
rs573226978
19 48961078 missense variant C/T snv 1.4E-04 9.8E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2001 2001