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: rs7549358
rs7549358 		1 114709988 intron variant G/A;C;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs121913248
rs121913248 		1.000 0.040 1 114716109 missense variant C/G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.710 1.000 3 2001 2014
dbSNP: rs8453
rs8453 		1.000 0.040 1 114716978 3 prime UTR variant G/T snv 0.11
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.800 1.000 1 2014 2014
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: rs267606920
rs267606920 		0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 2 2010 2010
dbSNP: rs267606921
rs267606921 		0.882 0.160 1 114713941 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 0.700 1.000 2 2010 2011
dbSNP: rs267606921
rs267606921 		0.882 0.160 1 114713941 missense variant G/A snv
CUI: C2750732
Disease: Noonan Syndrome 6
Noonan Syndrome 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 2 2010 2010
dbSNP: rs267606920
rs267606920 		0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs267606920
rs267606920 		0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
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: rs267606920
rs267606920 		0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06
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: rs267606921
rs267606921 		0.882 0.160 1 114713941 missense variant G/A 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: 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: rs397514553
rs397514553 		0.925 0.200 1 114716060 missense variant G/A snv
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		Neoplasms 0.800 1.000 1 2012 2012
dbSNP: rs397514553
rs397514553 		0.925 0.200 1 114716060 missense variant G/A 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: 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: rs121434595
rs121434595 		0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		Neoplasms 0.020 1.000 2 2014 2017
dbSNP: rs121434595
rs121434595 		0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		Neoplasms 0.020 1.000 2 2014 2017
dbSNP: rs121434595
rs121434595 		0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.020 1.000 2 2014 2017
dbSNP: rs121434595
rs121434595 		0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 2 2009 2013
dbSNP: rs121434595
rs121434595 		0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121434595
rs121434595 		0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C0349658
Disease: Trichoepithelioma
Trichoepithelioma 		Neoplasms 0.010 1.000 1 2017 2017