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: rs104894340
rs104894340 		0.827 0.200 12 57751647 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.740 0.600 5 2003 2014
dbSNP: rs104894340
rs104894340 		0.827 0.200 12 57751647 missense variant C/A;T snv
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.800 1.000 4 1995 1998
dbSNP: rs104894340
rs104894340 		0.827 0.200 12 57751647 missense variant C/A;T snv
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: rs104894340
rs104894340 		0.827 0.200 12 57751647 missense variant C/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs104894340
rs104894340 		0.827 0.200 12 57751647 missense variant C/A;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1336539869
rs1336539869 		0.925 0.120 12 57751681 missense variant C/G snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1336539869
rs1336539869 		0.925 0.120 12 57751681 missense variant C/G snv
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs587778186
rs587778186 		1.000 0.160 12 57750765 missense variant C/T snv 7.0E-06
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs753152604
rs753152604 		0.827 0.040 12 57751680 missense variant C/A snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs753152604
rs753152604 		0.827 0.040 12 57751680 missense variant C/A snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs753152604
rs753152604 		0.827 0.040 12 57751680 missense variant C/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs753152604
rs753152604 		0.827 0.040 12 57751680 missense variant C/A snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs753152604
rs753152604 		0.827 0.040 12 57751680 missense variant C/A snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs753152604
rs753152604 		0.827 0.040 12 57751680 missense variant C/A snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs753152604
rs753152604 		0.827 0.040 12 57751680 missense variant C/A snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs768477694
rs768477694 		1.000 0.080 12 57751572 missense variant A/G snv 4.0E-06
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.100 1.000 11 1997 2016
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.800 1.000 5 1995 2013
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 0.500 2 2002 2003
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 0.500 2 2002 2006
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		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: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2001 2001
dbSNP: rs11547328
rs11547328 		0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		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: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012