KRAS, KRAS proto-oncogene, GTPase, 3845

N. diseases: 1213; N. variants: 54
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: rs104886028
rs104886028 		1.000 0.080 12 25227308 missense variant C/T snv
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs104894359
rs104894359 		0.851 0.200 12 25227346 missense variant C/G;T snv
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2001 2001
dbSNP: rs104894362
rs104894362 		0.882 0.200 12 25209894 missense variant G/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs104894362
rs104894362 		0.882 0.200 12 25209894 missense variant G/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs104894365
rs104894365 		0.827 0.320 12 25245345 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs104894365
rs104894365 		0.827 0.320 12 25245345 missense variant C/T snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs104894365
rs104894365 		0.827 0.320 12 25245345 missense variant C/T snv
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs104894365
rs104894365 		0.827 0.320 12 25245345 missense variant C/T snv
CUI: C1402294
Disease: Primary Lesion
Primary Lesion 		0.010 1.000 1 2019 2019
dbSNP: rs104894365
rs104894365 		0.827 0.320 12 25245345 missense variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs104894365
rs104894365 		0.827 0.320 12 25245345 missense variant C/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1057519725
rs1057519725 		0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057519725
rs1057519725 		0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1057519725
rs1057519725 		0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519725
rs1057519725 		0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C1838329
Disease: APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0040100
Disease: Thymoma
Thymoma 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C4049272
Disease: Tumour budding
Tumour budding 		0.010 1.000 1 2015 2015
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019