KRAS, KRAS proto-oncogene, GTPase, 3845

N. diseases: 1213; N. variants: 54
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: rs121913528
rs121913528 		0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		0.700 0
dbSNP: rs121913528
rs121913528 		0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		Musculoskeletal Diseases 0.700 0
dbSNP: rs121913528
rs121913528 		0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121913528
rs121913528 		0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C1842881
Disease: Dilated aortic root
Dilated aortic root 		0.700 0
dbSNP: rs121913528
rs121913528 		0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0271618
Disease: Delayed female puberty
Delayed female puberty 		Endocrine System Diseases 0.700 0
dbSNP: rs121913528
rs121913528 		0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 0
dbSNP: rs121913528
rs121913528 		0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121913528
rs121913528 		0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs121913528
rs121913528 		0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C4016403
Disease: BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
BLADDER CANCER, TRANSITIONAL CELL, SOMATIC 		0.700 0
dbSNP: rs121913528
rs121913528 		0.851 0.160 12 25227349 missense variant C/A;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
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: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1842408
Disease: increased risk of pancreatic cancer
increased risk of pancreatic cancer 		Neoplasms 0.700 0
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C4302356
Disease: Primary low grade serous adenocarcinoma of ovary
Primary low grade serous adenocarcinoma of ovary 		0.700 0
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121913529
rs121913529 		0.492 0.680 12 25245350 missense variant C/A;G;T snv 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 0.700 0
dbSNP: rs121913530
rs121913530 		0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913530
rs121913530 		0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs121913530
rs121913530 		0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		Neoplasms 0.700 0
dbSNP: rs121913535
rs121913535 		0.742 0.320 12 25245348 missense variant C/A;G;T snv
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		Neoplasms 0.700 0
dbSNP: rs17851045
rs17851045 		0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs17851045
rs17851045 		0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs397517040
rs397517040 		0.925 0.120 12 25245346 synonymous variant G/A;T snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs606231202
rs606231202 		1.000 0.040 12 25245355 inframe insertion -/CCA delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs727503106
rs727503106 		1.000 0.080 12 25227234 missense variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs727503109
rs727503109 		0.752 0.320 12 25245277 missense variant T/C snv
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		Eye Diseases 0.700 0