TCF21, transcription factor 21, 6943

N. diseases: 143; 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: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C1176475
Disease: Ductal Carcinoma
Ductal Carcinoma
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C1527349
Disease: Ductal Breast Carcinoma
Ductal Breast Carcinoma
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs12190287
rs12190287
0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2327429
rs2327429
0.882 0.120 6 133888699 non coding transcript exon variant T/C snv 0.24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2327429
rs2327429
0.882 0.120 6 133888699 non coding transcript exon variant T/C snv 0.24
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2327430
rs2327430
0.925 0.080 6 133888899 non coding transcript exon variant C/T snv 0.59
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2327430
rs2327430
0.925 0.080 6 133888899 non coding transcript exon variant C/T snv 0.59
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2327433
rs2327433
0.925 0.080 6 133893089 3 prime UTR variant G/A;C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2327433
rs2327433
0.925 0.080 6 133893089 3 prime UTR variant G/A;C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4896011
rs4896011
0.925 0.080 6 133893615 3 prime UTR variant A/T snv 0.94
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4896011
rs4896011
0.925 0.080 6 133893615 3 prime UTR variant A/T snv 0.94
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7766238
rs7766238
0.925 0.080 6 133893438 3 prime UTR variant A/G snv 0.90
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7766238
rs7766238
0.925 0.080 6 133893438 3 prime UTR variant A/G snv 0.90
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016