EPHA3, EPH receptor A3, 2042

N. diseases: 193; N. variants: 18
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: rs6551412
rs6551412 		3 89447352 intron variant G/A snv 0.20
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs6771054
rs6771054 		1.000 0.080 3 89440379 intron variant T/A;C;G snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7650184
rs7650184 		1.000 0.080 3 89480907 3 prime UTR variant C/A snv 0.46
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1414714315
rs1414714315 		1.000 0.080 3 89413239 missense variant A/C snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs200567888
rs200567888 		1.000 0.120 3 89210327 missense variant G/T snv 1.2E-03 9.8E-04
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs372594677
rs372594677 		1.000 0.080 3 89472571 missense variant C/A;T snv 8.0E-06; 1.2E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs1187636039
rs1187636039 		0.925 0.120 3 89341043 missense variant C/A snv
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1187636039
rs1187636039 		0.925 0.120 3 89341043 missense variant C/A snv
CUI: C0231528
Disease: Myalgia
Myalgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1187636039
rs1187636039 		0.925 0.120 3 89341043 missense variant C/A snv
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs1187636039
rs1187636039 		0.925 0.120 3 89341043 missense variant C/A snv
CUI: C0003862
Disease: Arthralgia
Arthralgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1187636039
rs1187636039 		0.925 0.120 3 89341043 missense variant C/A snv
CUI: C0042109
Disease: Urticaria
Urticaria 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1230871085
rs1230871085 		1.000 0.120 3 89210149 missense variant C/G snv 4.0E-06
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1246784896
rs1246784896 		1.000 0.120 3 89127264 synonymous variant A/G snv 4.0E-06
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1409851868
rs1409851868 		0.882 0.080 3 89399325 missense variant A/G snv
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs1409851868
rs1409851868 		0.882 0.080 3 89399325 missense variant A/G snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1409851868
rs1409851868 		0.882 0.080 3 89399325 missense variant A/G snv
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs1409851868
rs1409851868 		0.882 0.080 3 89399325 missense variant A/G snv
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs1409851868
rs1409851868 		0.882 0.080 3 89399325 missense variant A/G snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1409851868
rs1409851868 		0.882 0.080 3 89399325 missense variant A/G snv
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1439645986
rs1439645986 		3 89210518 missense variant A/G snv 5.4E-06
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1443135220
rs1443135220 		3 89210100 missense variant G/A snv 4.0E-06
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs201468736
rs201468736 		0.925 0.120 3 89340924 missense variant C/A;G;T snv 4.2E-06; 8.4E-06
CUI: C2585959
Disease: Homozygous protein C deficiency
Homozygous protein C deficiency 		0.010 1.000 1 2012 2012
dbSNP: rs201468736
rs201468736 		0.925 0.120 3 89340924 missense variant C/A;G;T snv 4.2E-06; 8.4E-06
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs751094345
rs751094345 		1.000 0.080 3 89210154 missense variant G/A snv
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs7650466
rs7650466 		0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018