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: rs375878504
rs375878504 		1.000 0.080 11 532741 synonymous variant G/A;C snv 8.1E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs375878504
rs375878504 		1.000 0.080 11 532741 synonymous variant G/A;C snv 8.1E-06 7.0E-06
CUI: C0028259
Disease: Nodule
Nodule 		0.010 1.000 1 2018 2018
dbSNP: rs375878504
rs375878504 		1.000 0.080 11 532741 synonymous variant G/A;C snv 8.1E-06 7.0E-06
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1434040739
rs1434040739 		0.925 0.200 11 532745 missense variant T/A snv 8.1E-06 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1434040739
rs1434040739 		0.925 0.200 11 532745 missense variant T/A snv 8.1E-06 7.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs35613389
rs35613389 		1.000 0.080 11 533309 frameshift variant G/-;GG delins
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121917759
rs121917759 		0.790 0.480 11 533466 missense variant G/A snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 9 2005 2014
dbSNP: rs121917759
rs121917759 		0.790 0.480 11 533466 missense variant G/A snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121917759
rs121917759 		0.790 0.480 11 533466 missense variant G/A snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121917759
rs121917759 		0.790 0.480 11 533466 missense variant G/A snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121917759
rs121917759 		0.790 0.480 11 533466 missense variant G/A snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs121917759
rs121917759 		0.790 0.480 11 533466 missense variant G/A snv
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121917759
rs121917759 		0.790 0.480 11 533466 missense variant G/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121917759
rs121917759 		0.790 0.480 11 533466 missense variant G/A snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231 		0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 7 2005 2010
dbSNP: rs104894231
rs104894231 		0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231 		0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C1838329
Disease: APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs104894231
rs104894231 		0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231 		0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231 		0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231 		0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs104894231
rs104894231 		0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231 		0.776 0.360 11 533467 missense variant C/G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 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