NRAS, NRAS proto-oncogene, GTPase, 4893

N. diseases: 611; N. variants: 17
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: rs2273267
rs2273267 		0.882 0.080 1 114716848 upstream gene variant A/C;T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs2273267
rs2273267 		0.882 0.080 1 114716848 upstream gene variant A/C;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs2273267
rs2273267 		0.882 0.080 1 114716848 upstream gene variant A/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs2273267
rs2273267 		0.882 0.080 1 114716848 upstream gene variant A/C;T snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs869025573
rs869025573 		1.000 0.160 1 114716090 missense variant A/T snv
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs869025573
rs869025573 		1.000 0.160 1 114716090 missense variant A/T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121913237
rs121913237 		0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.740 1.000 13 1987 2017
dbSNP: rs121913237
rs121913237 		0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.740 1.000 11 1989 2016
dbSNP: rs121434596
rs121434596 		0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 10 1989 2014
dbSNP: rs121913237
rs121913237 		0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.100 1.000 10 2010 2020
dbSNP: rs121913250
rs121913250 		0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.720 1.000 10 1989 2016
dbSNP: rs121434595
rs121434595 		0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 9 1989 2014
dbSNP: rs121913237
rs121913237 		0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 9 2006 2016
dbSNP: rs121913250
rs121913250 		0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 9 2006 2016
dbSNP: rs121913250
rs121913250 		0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 7 1987 2016
dbSNP: rs121913250
rs121913250 		0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.710 1.000 6 2000 2012
dbSNP: rs121434596
rs121434596 		0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.740 1.000 5 2014 2016
dbSNP: rs121913250
rs121913250 		0.683 0.440 1 114716127 missense variant C/A;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 5 2000 2010
dbSNP: rs121913237
rs121913237 		0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-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 4 2004 2009
dbSNP: rs121913237
rs121913237 		0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.040 1.000 4 2011 2017
dbSNP: rs121913250
rs121913250 		0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 4 2002 2013
dbSNP: rs121913250
rs121913250 		0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.040 1.000 4 2011 2018
dbSNP: rs121434596
rs121434596 		0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.810 1.000 3 2007 2014
dbSNP: rs121913237
rs121913237 		0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.030 1.000 3 2011 2017
dbSNP: rs121913237
rs121913237 		0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.810 1.000 3 2007 2014