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: rs17851045
rs17851045 		0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.720 1.000 5 2002 2018
dbSNP: rs121913535
rs121913535 		0.742 0.320 12 25245348 missense variant C/A;G;T snv
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.720 1.000 2 2017 2018
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.710 1.000 9 2005 2011
dbSNP: rs104894364
rs104894364 		0.925 0.160 12 25227351 missense variant G/A snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.710 1.000 8 2006 2013
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/A;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 0.710 1.000 7 2006 2008
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.710 1.000 6 1987 2014
dbSNP: rs104894366
rs104894366 		0.776 0.400 12 25245284 missense variant G/A;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 0.710 1.000 5 1993 2011
dbSNP: rs727503108
rs727503108 		0.882 0.280 12 25227345 missense variant C/A snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.710 1.000 5 2006 2013
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 4 1987 2004
dbSNP: rs121913535
rs121913535 		0.742 0.320 12 25245348 missense variant C/A;G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.710 1.000 4 2002 2013
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.710 1.000 2 2019 2019
dbSNP: rs121913240
rs121913240 		0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		Neoplasms; Endocrine System Diseases 0.710 1.000 1 2014 2014
dbSNP: rs121913240
rs121913240 		0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 1 2017 2017
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		Neoplasms 0.710 1.000 1 2010 2010
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		Digestive System Diseases; Neoplasms 0.710 1.000 1 2015 2015
dbSNP: rs112445441
rs112445441 		0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 16 2005 2015
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 12 2005 2014
dbSNP: rs17851045
rs17851045 		0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 12 2005 2016
dbSNP: rs121913530
rs121913530 		0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 11 2005 2014
dbSNP: rs121913238
rs121913238 		0.732 0.240 12 25227343 missense variant G/C;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 9 2005 2014
dbSNP: rs121913240
rs121913240 		0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 9 2005 2014
dbSNP: rs121913535
rs121913535 		0.742 0.320 12 25245348 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 9 2005 2014
dbSNP: rs770248150
rs770248150 		0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 9 2005 2016
dbSNP: rs1057519725
rs1057519725 		0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 8 2005 2011
dbSNP: rs121913527
rs121913527 		0.807 0.320 12 25225628 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 8 2005 2011