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: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		0.700 0
dbSNP: rs121913233
rs121913233 		0.627 0.520 11 533874 missense variant T/A;C;G snv
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs121913233
rs121913233 		0.627 0.520 11 533874 missense variant T/A;C;G snv
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs121917756
rs121917756 		0.925 0.120 11 533869 missense variant C/T snv
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121917757
rs121917757 		0.851 0.200 11 534259 stop gained G/A;T snv 1.2E-05
CUI: C1968782
Disease: MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: rs28933406
rs28933406 		0.667 0.480 11 533875 missense variant G/C;T snv
CUI: C0334517
Disease: Spermatocytic seminoma
Spermatocytic seminoma 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs28933406
rs28933406 		0.667 0.480 11 533875 missense variant G/C;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 0
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: 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: 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: rs104894230
rs104894230 		0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 1999 1999
dbSNP: rs727503094
rs727503094 		0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 1999 1999
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: rs104894228
rs104894228 		0.605 0.560 11 534286 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 0.830 1.000 16 2005 2017
dbSNP: rs121917758
rs121917758 		0.851 0.160 11 533883 missense variant G/A snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 15 2005 2016