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: 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
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic 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: C0038362
Disease: Stomatitis
Stomatitis 		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: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		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: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		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: C0242379
Disease: Malignant neoplasm of lung
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: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		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: C2986665
Disease: Early-Stage Breast Carcinoma
Early-Stage Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 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: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2011 2011