H2AX, H2A.X variant histone, 3014

N. diseases: 212; N. variants: 6
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: rs2509851
rs2509851 		11 119096070 upstream gene variant A/C snv 0.30
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs2509049
rs2509049 		0.827 0.160 11 119095811 upstream gene variant C/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2509049
rs2509049 		0.827 0.160 11 119095811 upstream gene variant C/A;T snv
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2509049
rs2509049 		0.827 0.160 11 119095811 upstream gene variant C/A;T snv
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: rs2509049
rs2509049 		0.827 0.160 11 119095811 upstream gene variant C/A;T snv
CUI: C0334634
Disease: Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2509049
rs2509049 		0.827 0.160 11 119095811 upstream gene variant C/A;T snv
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2509049
rs2509049 		0.827 0.160 11 119095811 upstream gene variant C/A;T snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs643788
rs643788 		1.000 0.040 11 119097048 missense variant T/C snv 0.42 0.38
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs7350
rs7350 		1.000 0.080 11 119094338 3 prime UTR variant G/A snv 0.30
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs7759
rs7759 		0.882 0.080 11 119096581 3 prime UTR variant A/G snv 0.30
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs7759
rs7759 		0.882 0.080 11 119096581 3 prime UTR variant A/G snv 0.30
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7759
rs7759 		0.882 0.080 11 119096581 3 prime UTR variant A/G snv 0.30
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: rs8551
rs8551 		0.925 0.080 11 119096814 3 prime UTR variant C/T snv 0.38
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: rs8551
rs8551 		0.925 0.080 11 119096814 3 prime UTR variant C/T snv 0.38
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018