CCND1, cyclin D1, 595

N. diseases: 859; 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: rs34507830
rs34507830 		1.000 0.080 11 69646918 intron variant C/T snv 1.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3212880
rs3212880 		11 69648911 intron variant A/G snv 5.4E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3918292
rs3918292 		11 69642779 intron variant C/T snv 9.1E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.040 1.000 4 2009 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.040 1.000 4 2009 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.040 1.000 4 2009 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0268381
Disease: Primary amyloidosis
Primary amyloidosis 		Neoplasms; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 2 2017 2017
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.710 1.000 2 2013 2017
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis 		Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018