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: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		Neoplasms 0.800 0
dbSNP: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0544862
Disease: Neurocutaneous melanosis
Neurocutaneous melanosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 0
dbSNP: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		Neoplasms; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		0.800 0
dbSNP: rs121434595
rs121434595 		0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.800 0
dbSNP: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G 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: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G 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: rs121434596
rs121434596 		0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-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 0.700 0
dbSNP: rs121913250
rs121913250 		0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.700 0
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: 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: 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: rs121434596
rs121434596 		0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
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 0.800 1.000 1 2007 2007
dbSNP: rs121913237
rs121913237 		0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
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: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		Neoplasms 0.800 1.000 1 2012 2012
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: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		Neoplasms; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290 		0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016