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: rs121913240
rs121913240 		0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 1997 1997
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 1997 1997
dbSNP: rs121913530
rs121913530 		0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 1997 1997
dbSNP: rs17851045
rs17851045 		0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 < 0.001 1 2007 2007
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		Neoplasms 0.020 1.000 2 2010 2013
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.100 1.000 10 2010 2018
dbSNP: rs121913530
rs121913530 		0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract 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: 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: rs121913527
rs121913527 		0.807 0.320 12 25225628 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 2019 2019
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases 0.020 1.000 2 2019 2019
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: 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: rs121913528
rs121913528 		0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
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: rs121913535
rs121913535 		0.742 0.320 12 25245348 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 2018 2018
dbSNP: rs121913240
rs121913240 		0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.010 1.000 1 1997 1997
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.010 1.000 1 1997 1997
dbSNP: rs121913530
rs121913530 		0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.010 1.000 1 1997 1997
dbSNP: rs121913535
rs121913535 		0.742 0.320 12 25245348 missense variant C/A;G;T snv
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs727503109
rs727503109 		0.752 0.320 12 25245277 missense variant T/C snv
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		Eye Diseases 0.700 0
dbSNP: rs121913528
rs121913528 		0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C4016403
Disease: BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
BLADDER CANCER, TRANSITIONAL CELL, SOMATIC 		0.700 0