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: 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: C0268381
Disease: Primary amyloidosis
Primary amyloidosis 		Neoplasms; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 2 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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