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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0205748
Disease: Dysplastic Nevus
Dysplastic Nevus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C1513734
Disease: Solid/Multicystic Ameloblastoma
Solid/Multicystic Ameloblastoma
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913254
rs121913254
0.658 0.440 1 114713909 stop gained G/A;C;T snv
CUI: C0079774
Disease: Peripheral T-Cell Lymphoma
Peripheral T-Cell Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913254
rs121913254
0.658 0.440 1 114713909 stop gained G/A;C;T snv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
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: 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: rs1057519695
rs1057519695
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
Neoplasms 0.020 1.000 2 2016 2018
dbSNP: rs1057519834
rs1057519834
0.658 0.480 1 114713908 missense variant TG/CT mnv
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
Neoplasms 0.020 1.000 2 2016 2018
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
Neoplasms 0.020 1.000 2 2016 2018
dbSNP: rs1057519695
rs1057519695
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1057519695
rs1057519695
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv
Secondary malignant neoplasm of bone
Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1057519695
rs1057519695
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs1057519834
rs1057519834
0.658 0.480 1 114713908 missense variant TG/CT mnv
Secondary malignant neoplasm of bone
Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1057519834
rs1057519834
0.658 0.480 1 114713908 missense variant TG/CT mnv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs1057519834
rs1057519834
0.658 0.480 1 114713908 missense variant TG/CT mnv
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
Secondary malignant neoplasm of bone
Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs121434596
rs121434596
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121434596
rs121434596
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121434596
rs121434596
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018