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: rs11212587
rs11212587 		1.000 0.200 11 108315883 missense variant G/A snv 1.4E-03 1.2E-03
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs376676328
rs376676328 		0.882 0.280 11 108353828 missense variant A/G snv 2.2E-04 1.8E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs376676328
rs376676328 		0.882 0.280 11 108353828 missense variant A/G snv 2.2E-04 1.8E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2007 2007
dbSNP: rs376676328
rs376676328 		0.882 0.280 11 108353828 missense variant A/G snv 2.2E-04 1.8E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2007 2007
dbSNP: rs376676328
rs376676328 		0.882 0.280 11 108353828 missense variant A/G snv 2.2E-04 1.8E-04
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs376676328
rs376676328 		0.882 0.280 11 108353828 missense variant A/G snv 2.2E-04 1.8E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs147187700
rs147187700 		0.925 0.120 11 108310218 missense variant G/C snv 1.3E-04 1.8E-04
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs147187700
rs147187700 		0.925 0.120 11 108310218 missense variant G/C snv 1.3E-04 1.8E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs147187700
rs147187700 		0.925 0.120 11 108310218 missense variant G/C snv 1.3E-04 1.8E-04
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs529296539
rs529296539 		11 108345819 missense variant G/A;C;T snv 1.2E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 1998 2009
dbSNP: rs567060474
rs567060474 		1.000 0.120 11 108326070 missense variant G/A;T snv 1.0E-04
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs201963507
rs201963507 		1.000 0.200 11 108310287 stop gained A/G;T snv 1.0E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2008 2008
dbSNP: rs201963507
rs201963507 		1.000 0.200 11 108310287 stop gained A/G;T snv 1.0E-04
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2008 2008
dbSNP: rs56399857
rs56399857 		1.000 0.080 11 108330381 missense variant T/G snv 9.9E-05 1.8E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs139379666
rs139379666 		0.925 0.080 11 108365152 missense variant C/T snv 7.6E-05 5.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs139379666
rs139379666 		0.925 0.080 11 108365152 missense variant C/T snv 7.6E-05 5.6E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs202206540
rs202206540 		1.000 0.200 11 108316069 missense variant G/A snv 6.0E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 1999 2015
dbSNP: rs202206540
rs202206540 		1.000 0.200 11 108316069 missense variant G/A snv 6.0E-05 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs587779852
rs587779852 		0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 19 1998 2018
dbSNP: rs587779852
rs587779852 		0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.720 1.000 9 1999 2014
dbSNP: rs587779852
rs587779852 		0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2009 2009
dbSNP: rs587779852
rs587779852 		0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs28904921
rs28904921 		0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 21 1996 2016
dbSNP: rs28904921
rs28904921 		0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 19 1996 2016
dbSNP: rs28904921
rs28904921 		0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.780 0.875 8 1998 2016