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: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 7 2006 2011
dbSNP: rs104894359
rs104894359 		0.851 0.200 12 25227346 missense variant C/G;T snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.800 1.000 5 2006 2012
dbSNP: rs104894359
rs104894359 		0.851 0.200 12 25227346 missense variant C/G;T 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 0.700 1.000 3 2006 2011
dbSNP: rs104894359
rs104894359 		0.851 0.200 12 25227346 missense variant C/G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2006 2011
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: 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: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/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 0.720 1.000 7 2006 2008
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.700 0
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/A;C 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 0.700 0
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs104894361
rs104894361 		0.882 0.240 12 25245370 missense variant T/A;C;G snv 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 3 1987 2003
dbSNP: rs104894361
rs104894361 		0.882 0.240 12 25245370 missense variant T/A;C;G 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 0.700 1.000 1 2007 2007
dbSNP: rs104894361
rs104894361 		0.882 0.240 12 25245370 missense variant T/A;C;G snv 4.0E-06
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.700 0
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