CCND2, cyclin D2, 894

N. diseases: 241; N. variants: 15
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: rs3217810
rs3217810 		0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.800 1.000 4 2013 2019
dbSNP: rs3217901
rs3217901 		0.790 0.080 12 4296223 intron variant A/G snv 0.35
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.800 1.000 1 2013 2013
dbSNP: rs587777618
rs587777618 		0.925 12 4299977 missense variant A/G snv
CUI: C4014742
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 		0.800 1.000 1 2014 2014
dbSNP: rs587777620
rs587777620 		1.000 12 4299978 missense variant C/A;T snv 4.0E-06
CUI: C4014742
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 		0.800 1.000 1 2014 2014
dbSNP: rs587777622
rs587777622 		1.000 12 4299981 missense variant C/G;T snv
CUI: C4014742
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 		0.800 1.000 1 2014 2014
dbSNP: rs777786993
rs777786993 		1.000 12 4299990 missense variant T/C;G snv
CUI: C4014742
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 		0.800 1.000 1 2014 2014
dbSNP: rs587777618
rs587777618 		0.925 12 4299977 missense variant A/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 13 2004 2018
dbSNP: rs587777618
rs587777618 		0.925 12 4299977 missense variant A/G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 13 2004 2018
dbSNP: rs587777618
rs587777618 		0.925 12 4299977 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 2004 2018
dbSNP: rs587777621
rs587777621 		1.000 12 4299980 missense variant C/G;T snv 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 2004 2018
dbSNP: rs3217810
rs3217810 		0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 4 2013 2019
dbSNP: rs3217810
rs3217810 		0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 4 2013 2019
dbSNP: rs3217810
rs3217810 		0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 4 2013 2019
dbSNP: rs3217810
rs3217810 		0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 4 2013 2019
dbSNP: rs3217810
rs3217810 		0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 4 2013 2019
dbSNP: rs3217810
rs3217810 		0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 4 2013 2019
dbSNP: rs3217810
rs3217810 		0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 4 2013 2019
dbSNP: rs3217810
rs3217810 		0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 4 2013 2019
dbSNP: rs76895963
rs76895963 		1.000 0.080 12 4275678 intron variant T/G snv 1.5E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 3 2017 2019
dbSNP: rs76895963
rs76895963 		1.000 0.080 12 4275678 intron variant T/G snv 1.5E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 3 2018 2019
dbSNP: rs76895963
rs76895963 		1.000 0.080 12 4275678 intron variant T/G snv 1.5E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs12299509
rs12299509 		1.000 0.080 12 4297115 intron variant A/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3217810
rs3217810 		0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs3217827
rs3217827 		1.000 0.080 12 4283225 intron variant C/A;T snv 0.43
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs3217874
rs3217874 		0.776 0.080 12 4291642 intron variant C/T snv 0.37
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019