TTC21B, tetratricopeptide repeat domain 21B, 79809

N. diseases: 76; N. variants: 24
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: rs140511594
rs140511594 		0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 12 		0.800 1.000 3 2011 2017
dbSNP: rs387907060
rs387907060 		1.000 2 165911404 missense variant A/G snv
CUI: C3151185
Disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY 		0.800 1.000 1 2011 2011
dbSNP: rs140511594
rs140511594 		0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 2 2011 2014
dbSNP: rs140511594
rs140511594 		0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04
CUI: C3887499
Disease: Renal cyst
Renal cyst 		Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2014 2017
dbSNP: rs140511594
rs140511594 		0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 2 2014 2017
dbSNP: rs140511594
rs140511594 		0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 2 2011 2014
dbSNP: rs376308209
rs376308209 		1.000 2 165883922 missense variant T/C snv 3.2E-05 4.2E-05
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 12 		0.700 1.000 2 2011 2012
dbSNP: rs746700857
rs746700857 		1.000 2 165901880 missense variant G/A;T snv 4.0E-06 1.4E-05
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 12 		0.700 1.000 2 2011 2012
dbSNP: rs777427926
rs777427926 		1.000 2 165890907 missense variant A/G snv 1.2E-05
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 12 		0.700 1.000 2 2011 2012
dbSNP: rs146320075
rs146320075 		1.000 2 165917459 missense variant T/C snv 5.9E-04 6.2E-04
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 12 		0.700 1.000 1 2011 2011
dbSNP: rs1553508246
rs1553508246 		0.925 0.200 2 165898769 splice acceptor variant T/C snv
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1553508246
rs1553508246 		0.925 0.200 2 165898769 splice acceptor variant T/C snv
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2011 2011
dbSNP: rs9973361
rs9973361 		2 165859989 intron variant T/A snv 0.25
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs1040877016
rs1040877016 		1.000 2 165883978 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 12 		0.700 0
dbSNP: rs140511594
rs140511594 		0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs140511594
rs140511594 		0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04
CUI: C4551559
Disease: Senior-Loken Syndrome 1
Senior-Loken Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs140511594
rs140511594 		0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04
CUI: C3151185
Disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs140511594
rs140511594 		0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1453462442
rs1453462442 		1.000 0.120 2 165924668 missense variant G/T snv 7.0E-06
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs149925563
rs149925563 		0.925 2 165941046 missense variant T/A snv 1.1E-03 7.0E-04
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 12 		0.700 0
dbSNP: rs149925563
rs149925563 		0.925 2 165941046 missense variant T/A snv 1.1E-03 7.0E-04
CUI: C3151185
Disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs150742619
rs150742619 		1.000 0.120 2 165941034 missense variant C/G snv 6.3E-05
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553506530
rs1553506530 		0.925 0.200 2 165888354 frameshift variant TA/- delins
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553506530
rs1553506530 		0.925 0.200 2 165888354 frameshift variant TA/- delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1553516241
rs1553516241 		1.000 2 165945684 frameshift variant -/TCTA ins
CUI: C4694029
Disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY 		0.700 0