LRRC56, leucine rich repeat containing 56, 115399

N. diseases: 45; N. variants: 33
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: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		Neoplasms 0.710 1.000 1 2019 2019
dbSNP: rs121917756
rs121917756 		0.925 0.120 11 533869 missense variant C/T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2007 2007
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 2002 2017
dbSNP: rs727503093
rs727503093 		0.925 0.160 11 533881 missense variant C/T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 10 1982 2018
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0030354
Disease: Papilloma
Papilloma 		Neoplasms 0.700 1.000 9 2005 2009
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 9 2005 2009
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.700 1.000 9 2005 2009
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 1.000 9 2005 2009
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.700 1.000 9 2005 2009
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 9 2005 2009
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		Nervous System Diseases 0.700 1.000 9 2005 2009
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.700 1.000 9 2005 2009
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 1.000 9 2005 2009
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		Pathological Conditions, Signs and Symptoms 0.700 1.000 9 2005 2009
dbSNP: rs727503093
rs727503093 		0.925 0.160 11 533881 missense variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 9 1982 2011
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 5 2006 2012
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.700 1.000 5 2007 2016
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C3808548
Disease: Poor respiratory effort
Poor respiratory effort 		0.700 1.000 5 2006 2012
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.700 1.000 5 2007 2016
dbSNP: rs121913233
rs121913233 		0.627 0.520 11 533874 missense variant T/A;C;G snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.700 1.000 5 2007 2016
dbSNP: rs121913233
rs121913233 		0.627 0.520 11 533874 missense variant T/A;C;G snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2012 2016
dbSNP: rs104894228
rs104894228 		0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2006 2018
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2006 2016
dbSNP: rs121913496
rs121913496 		0.724 0.440 11 533873 missense variant C/A;G;T snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 2 1986 1991
dbSNP: rs104894226
rs104894226 		0.658 0.560 11 534285 missense variant C/A;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016