HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 698; N. variants: 29
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: rs121913233
rs121913233
0.627 0.520 11 533874 missense variant T/A;C;G snv
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28933406
rs28933406
0.667 0.480 11 533875 missense variant G/C;T snv
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0279629
Disease: Adult Acute Monoblastic Leukemia
Adult Acute Monoblastic Leukemia
Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs727503094
rs727503094
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv
CUI: C0279629
Disease: Adult Acute Monoblastic Leukemia
Adult Acute Monoblastic Leukemia
Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs121913496
rs121913496
0.724 0.440 11 533873 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 2012 2012
dbSNP: rs28933406
rs28933406
0.667 0.480 11 533875 missense variant G/C;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 2012 2012
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs727503094
rs727503094
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs104894228
rs104894228
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs104894226
rs104894226
0.658 0.560 11 534285 missense variant C/A;G;T snv
CUI: C0002170
Disease: Alopecia
Alopecia
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2005 2005
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs104894231
rs104894231
0.776 0.360 11 533467 missense variant C/G;T snv
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: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs727503094
rs727503094
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs104894226
rs104894226
0.658 0.560 11 534285 missense variant C/A;G;T snv
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: rs104894228
rs104894228
0.605 0.560 11 534286 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: rs12628
rs12628
0.776 0.160 11 534242 synonymous variant A/G snv 0.32 0.34
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.020 1.000 2 2015 2017
dbSNP: rs727503094
rs727503094
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.020 1.000 2 2015 2017
dbSNP: rs104894229
rs104894229
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.040 1.000 4 2011 2015
dbSNP: rs727503094
rs727503094
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.040 1.000 4 2011 2015
dbSNP: rs1057519855
rs1057519855
0.776 0.120 11 533873 missense variant CT/AC;TC mnv
CUI: C0007097
Disease: Carcinoma
Carcinoma
Neoplasms 0.010 1.000 1 2018 2018