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: rs1172398253
rs1172398253 		0.925 0.080 1 85582045 missense variant C/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1172398253
rs1172398253 		0.925 0.080 1 85582045 missense variant C/T snv 4.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2009 2009
dbSNP: rs1172398253
rs1172398253 		0.925 0.080 1 85582045 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 0.010 1.000 1 2009 2009
dbSNP: rs1172398253
rs1172398253 		0.925 0.080 1 85582045 missense variant C/T snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1346496644
rs1346496644 		1 85581440 missense variant C/G;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2297141
rs2297141 		0.925 0.080 1 85581241 non coding transcript exon variant G/A;C snv
CUI: C3831784
Disease: Acute monocytic/monoblastic leukemia
Acute monocytic/monoblastic leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2297141
rs2297141 		0.925 0.080 1 85581241 non coding transcript exon variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3753793
rs3753793 		0.851 0.240 1 85580205 upstream gene variant A/C snv 0.26
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3753793
rs3753793 		0.851 0.240 1 85580205 upstream gene variant A/C snv 0.26
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3753793
rs3753793 		0.851 0.240 1 85580205 upstream gene variant A/C snv 0.26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3753793
rs3753793 		0.851 0.240 1 85580205 upstream gene variant A/C snv 0.26
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6576776
rs6576776 		0.925 0.080 1 85584394 downstream gene variant C/A;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs6576776
rs6576776 		0.925 0.080 1 85584394 downstream gene variant C/A;G snv
CUI: C3831784
Disease: Acute monocytic/monoblastic leukemia
Acute monocytic/monoblastic leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018