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: rs112690925
rs112690925 		11 535098 intron variant T/G snv 0.25
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs112690925
rs112690925 		11 535098 intron variant T/G snv 0.25
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs766801436
rs766801436 		11 533505 missense variant A/G;T snv 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs766801436
rs766801436 		11 533505 missense variant A/G;T snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs7939028
rs7939028 		11 536856 non coding transcript exon variant G/C snv 0.25
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs7939028
rs7939028 		11 536856 non coding transcript exon variant G/C snv 0.25
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.900 1.000 31 2005 2018
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.840 1.000 23 1990 2019
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.100 1.000 13 2010 2019
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: 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: 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: 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