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: 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: 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
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: rs121913233
rs121913233 		0.627 0.520 11 533874 missense variant T/A;C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.730 1.000 4 2014 2017
dbSNP: rs727503094
rs727503094 		0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.040 1.000 4 2011 2015
dbSNP: rs104894226
rs104894226 		0.658 0.560 11 534285 missense variant C/A;G;T snv
CUI: C0040100
Disease: Thymoma
Thymoma 		Neoplasms; Hemic and Lymphatic Diseases 0.710 1.000 3 2009 2014
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: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 3 2014 2017
dbSNP: rs104894226
rs104894226 		0.658 0.560 11 534285 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2015 2019
dbSNP: rs104894228
rs104894228 		0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.710 1.000 2 2014 2014
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2012 2020
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2012 2020
dbSNP: rs104894229
rs104894229 		0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2016 2016
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.710 1.000 2 2014 2016
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.710 1.000 2 2014 2016
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2006 2015
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 2 2011 2016
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2006 2015
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.720 1.000 2 2012 2019
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2015 2017