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: rs17860424
rs17860424
1.000 0.107 2 201276908 stop gained C/T snp 1.2E-05 3.2E-05
Autoimmune Lymphoproliferative Syndrome Type 2B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Immune System Diseases 0.800 1 2002 2002
dbSNP: rs3769825
rs3769825
1.000 0.107 2 201246657 intron variant A/G snp 0.46
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms 0.800 1 2013 2013
dbSNP: rs10931936
rs10931936
0.846 0.071 2 201279205 intron variant T/C snp 0.73
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.700 1 2012 2012
dbSNP: rs10931936
rs10931936
0.846 0.071 2 201279205 intron variant T/C snp 0.73
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.700 1 2011 2011
dbSNP: rs3769821
rs3769821
0.923 0.143 2 201258707 intron variant C/T snp 0.59
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1 2018 2018
dbSNP: rs3769823
rs3769823
1.000 0.036 2 201258272 missense variant A/G snp 0.66 0.66
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
Neoplasms 0.700 1 2017 2017
dbSNP: rs587776665
rs587776665
1.000 0.071 2 201285241 frameshift variant TGT/T in-del
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.700 1 2005 2005
dbSNP: rs6735656
rs6735656
2 201259779 intron variant G/T snp 0.74
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1 2017 2017
dbSNP: rs1045485
rs1045485
0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.100 1.000 13 2004 2011
dbSNP: rs1045485
rs1045485
0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.100 1.000 12 2004 2011
dbSNP: rs1045485
rs1045485
0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms 0.020 1.000 2 2010 2011
dbSNP: rs1045485
rs1045485
0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.020 1.000 2 2010 2011
dbSNP: rs3769821
rs3769821
0.923 0.143 2 201258707 intron variant C/T snp 0.59
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms 0.020 1.000 2 2011 2014
dbSNP: rs3834129
rs3834129
0.715 0.321 2 201232809 intergenic variant TAGTAAG/T in-del
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
Digestive System Diseases; Neoplasms 0.020 1.000 2 2008 2014
dbSNP: rs3834129
rs3834129
0.715 0.321 2 201232809 intergenic variant TAGTAAG/T in-del
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.020 1.000 2 2008 2014
dbSNP: rs3834129
rs3834129
0.715 0.321 2 201232809 intergenic variant TAGTAAG/T in-del
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms 0.020 1.000 2 2011 2014
dbSNP: rs3834129
rs3834129
0.715 0.321 2 201232809 intergenic variant TAGTAAG/T in-del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2011
dbSNP: rs3834129
rs3834129
0.715 0.321 2 201232809 intergenic variant TAGTAAG/T in-del
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2011
dbSNP: rs1045485
rs1045485
0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2008 2008
dbSNP: rs1045485
rs1045485
0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1045485
rs1045485
0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02
CUI: C0025286
Disease: Meningioma
Meningioma
Neoplasms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1045485
rs1045485
0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Neoplasms; Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2006 2006
dbSNP: rs1045485
rs1045485
0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02
Meningioma, benign, no ICD-O subtype
0.010 1.000 1 2009 2009
dbSNP: rs1045485
rs1045485
0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02
CUI: C0004096
Disease: Asthma
Asthma
Immune System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1045485
rs1045485
0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 1.000 1 2010 2010