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: rs1564800859
rs1564800859 		1.000 11 544781 splice donor variant G/A snv
CUI: C4748841
Disease: CILIARY DYSKINESIA, PRIMARY, 39
CILIARY DYSKINESIA, PRIMARY, 39 		0.700 0
dbSNP: rs1564805039
rs1564805039 		1.000 11 549994 missense variant T/C snv
CUI: C4748841
Disease: CILIARY DYSKINESIA, PRIMARY, 39
CILIARY DYSKINESIA, PRIMARY, 39 		0.700 0
dbSNP: rs1564805053
rs1564805053 		1.000 11 549999 splice donor variant G/A snv
CUI: C4748841
Disease: CILIARY DYSKINESIA, PRIMARY, 39
CILIARY DYSKINESIA, PRIMARY, 39 		0.700 0
dbSNP: rs372959912
rs372959912 		1.000 11 551266 stop gained G/A;T snv 3.4E-05 2.8E-05
CUI: C4748841
Disease: CILIARY DYSKINESIA, PRIMARY, 39
CILIARY DYSKINESIA, PRIMARY, 39 		0.700 0
dbSNP: rs104894227
rs104894227 		1.000 0.080 11 533553 missense variant T/C snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 11 2005 2018
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: 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: rs398122808
rs398122808 		1.000 0.080 11 534210 coding sequence variant -/CTC delins
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs398122809
rs398122809 		1.000 0.080 11 534212 inframe insertion -/TCT delins
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs587777239
rs587777239 		1.000 0.080 11 533848 inframe insertion -/GTCCCGCATGGCGCTGTACTC delins
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs727504747
rs727504747 		1.000 0.080 11 533880 missense variant GC/AG mnv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057519855
rs1057519855 		0.776 0.120 11 533873 missense variant CT/AC;TC mnv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.710 1.000 2 2014 2014
dbSNP: rs730880460
rs730880460 		0.882 0.120 11 533877 missense variant C/A;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2015 2017
dbSNP: rs1057519855
rs1057519855 		0.776 0.120 11 533873 missense variant CT/AC;TC mnv
CUI: C1334282
Disease: Inverted urothelial papilloma
Inverted urothelial papilloma 		0.010 1.000 1 2014 2014
dbSNP: rs1057519855
rs1057519855 		0.776 0.120 11 533873 missense variant CT/AC;TC mnv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057519855
rs1057519855 		0.776 0.120 11 533873 missense variant CT/AC;TC mnv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1057519855
rs1057519855 		0.776 0.120 11 533873 missense variant CT/AC;TC mnv
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2016 2016