TBX3, T-box transcription factor 3, 6926

N. diseases: 179; N. variants: 12
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: rs59336
rs59336 		0.776 0.160 12 114678547 intron variant T/A;G snv 0.49
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.810 0.500 2 2013 2014
dbSNP: rs1061651
rs1061651 		0.925 0.080 12 114670556 3 prime UTR variant T/C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2242442
rs2242442 		0.925 0.080 12 114683384 5 prime UTR variant G/A snv 0.20
CUI: C0948364
Disease: Periprosthetic osteolysis
Periprosthetic osteolysis 		Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs515746
rs515746 		1.000 0.080 12 114681192 intron variant G/A snv 0.49 0.48
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs551510
rs551510 		1.000 0.080 12 114676231 intron variant C/T snv 0.49
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs59336
rs59336 		0.776 0.160 12 114678547 intron variant T/A;G snv 0.49
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs59336
rs59336 		0.776 0.160 12 114678547 intron variant T/A;G snv 0.49
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2013 2013
dbSNP: rs59336
rs59336 		0.776 0.160 12 114678547 intron variant T/A;G snv 0.49
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs59336
rs59336 		0.776 0.160 12 114678547 intron variant T/A;G snv 0.49
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs59336
rs59336 		0.776 0.160 12 114678547 intron variant T/A;G snv 0.49
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2013 2013
dbSNP: rs59336
rs59336 		0.776 0.160 12 114678547 intron variant T/A;G snv 0.49
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2013 2013
dbSNP: rs59336
rs59336 		0.776 0.160 12 114678547 intron variant T/A;G snv 0.49
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2013 2013
dbSNP: rs59336
rs59336 		0.776 0.160 12 114678547 intron variant T/A;G snv 0.49
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs8853
rs8853 		0.882 0.120 12 114671102 3 prime UTR variant T/C snv 0.52
CUI: C0574785
Disease: Lower Urinary Tract Symptoms
Lower Urinary Tract Symptoms 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs8853
rs8853 		0.882 0.120 12 114671102 3 prime UTR variant T/C snv 0.52
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs104894376
rs104894376 		1.000 0.080 12 114677644 stop gained T/A snv
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060505020
rs1060505020 		1.000 0.080 12 114674452 stop gained G/A snv
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1565858163
rs1565858163 		1.000 0.080 12 114672091 frameshift variant -/GC delins
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397514484
rs397514484 		1.000 0.080 12 114676361 stop gained G/A snv
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1061651
rs1061651 		0.925 0.080 12 114670556 3 prime UTR variant T/C 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: rs1061651
rs1061651 		0.925 0.080 12 114670556 3 prime UTR variant T/C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs201325654
rs201325654 		1.000 12 114674250 missense variant G/A snv 1.4E-03 3.8E-04
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2018 2018
dbSNP: rs2242442
rs2242442 		0.925 0.080 12 114683384 5 prime UTR variant G/A snv 0.20
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2242442
rs2242442 		0.925 0.080 12 114683384 5 prime UTR variant G/A snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs59336
rs59336 		0.776 0.160 12 114678547 intron variant T/A;G snv 0.49
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017