EFL1, elongation factor like GTPase 1, 79631

N. diseases: 73; N. variants: 13
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: rs2665103
rs2665103 		15 82140374 intron variant T/C snv 0.57
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2019
dbSNP: rs111491984
rs111491984 		15 82195898 intron variant A/T snv 0.22
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs12439619
rs12439619 		15 82254605 intron variant T/G snv 0.27
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1972460
rs1972460 		15 82238289 intron variant A/G snv 0.41 0.40
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs2134046
rs2134046 		15 82232203 intron variant T/C snv 0.40
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs28420834
rs28420834 		15 82220780 intron variant A/G snv 0.62
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs4778665
rs4778665 		15 82144163 intron variant G/A snv 0.16
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs4778988
rs4778988 		15 82247996 intron variant T/C snv 0.27
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs8025964
rs8025964 		15 82229429 intron variant G/A snv 0.45
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs867371
rs867371 		15 82146005 intron variant A/T snv 0.34
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1316615934
rs1316615934 		0.925 15 82151809 missense variant A/T snv 8.0E-06
CUI: C4693704
Disease: SHWACHMAN-DIAMOND SYNDROME 2
SHWACHMAN-DIAMOND SYNDROME 2 		0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0018965
Disease: Hematuria
Hematuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0544755
Disease: Genu varum
Genu varum 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C4024881
Disease: Few cafe-au-lait spots
Few cafe-au-lait spots 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1441937959
rs1441937959 		0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0