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: C3810481
Disease: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO
MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C1858438
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO
COLORECTAL CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs9344
rs9344 		0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39
CUI: C3805838
Disease: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF
VON HIPPEL-LINDAU SYNDROME, MODIFIER OF 		0.700 0
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs766170770
rs766170770 		0.925 0.080 11 69641374 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs3212879
rs3212879 		11 69648711 intron variant GG/-;G delins 0.44
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs766170770
rs766170770 		0.925 0.080 11 69641374 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1167791
Disease: Skin toxicity
Skin toxicity 		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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs678653
rs678653 		0.925 0.120 11 69651969 3 prime UTR variant C/G;T snv
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: rs678653
rs678653 		0.925 0.120 11 69651969 3 prime UTR variant C/G;T snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs678653
rs678653 		0.925 0.120 11 69651969 3 prime UTR variant C/G;T snv
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: 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: 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: 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: 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: 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: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 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: 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: 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: C2986665
Disease: Early-Stage Breast Carcinoma
Early-Stage Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014