CDK4, cyclin dependent kinase 4, 1019

N. diseases: 433; N. variants: 8
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: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0004565
Disease: Melanoma, B16
Melanoma, B16 		Neoplasms 0.010 < 0.001 1 2006 2006
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0030354
Disease: Papilloma
Papilloma 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C1257965
Disease: Compensatory Hyperinsulinemia
Compensatory Hyperinsulinemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0260037
Disease: Multiple tumors
Multiple tumors 		Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs143670820
rs143670820 		1.000 0.040 12 57749249 missense variant G/C;T snv 5.2E-05; 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs144890720
rs144890720 		1.000 12 57751596 missense variant T/C snv 1.1E-04 1.3E-04
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 1.000 4 1995 1998