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: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.020 1.000 2 2017 2019
dbSNP: rs1340132260
rs1340132260 		0.925 0.080 11 69641336 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1340132260
rs1340132260 		0.925 0.080 11 69641336 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1944129
rs1944129 		1.000 0.120 11 69639167 upstream gene variant C/G;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3017621
rs3017621 		11 69642133 intron variant G/C;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
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
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: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0025286
Disease: Meningioma
Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs603965
rs603965 		0.732 0.440 11 69648142 splice region variant G/A snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
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: 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: rs678653
rs678653 		0.925 0.120 11 69651969 3 prime UTR variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs678653
rs678653 		0.925 0.120 11 69651969 3 prime UTR variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2016 2016
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: 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