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: 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: 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: 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: 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
dbSNP: rs1553516687
rs1553516687 		1.000 0.080 2 165949615 missense variant G/T snv
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs185089786
rs185089786 		1.000 2 165929290 stop gained G/A;C snv 1.2E-05; 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: rs387907059
rs387907059 		1.000 2 165919294 stop gained A/T snv
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 12 		0.700 0
dbSNP: rs759086770
rs759086770 		1.000 0.080 2 165883873 missense variant A/G snv
CUI: C0432198
Disease: Short rib-polydactyly syndrome, Beemer type
Short rib-polydactyly syndrome, Beemer type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs759648976
rs759648976 		1.000 0.080 2 165953686 stop gained -/CACCCGC ins
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs777162250
rs777162250 		1.000 0.120 2 165941053 stop gained C/T snv 8.0E-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: 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: rs753627675
rs753627675 		1.000 0.200 2 165929748 splice acceptor variant C/G snv 1.6E-05 7.0E-06
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: 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: 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: rs775836730
rs775836730 		1.000 0.080 2 165929201 frameshift variant A/- delins 2.8E-05
CUI: C0432198
Disease: Short rib-polydactyly syndrome, Beemer type
Short rib-polydactyly syndrome, Beemer type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs766132877
rs766132877 		0.925 0.080 2 165899882 splice acceptor variant T/C snv 2.0E-05 2.8E-05
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 12 		0.700 0
dbSNP: rs766132877
rs766132877 		0.925 0.080 2 165899882 splice acceptor variant T/C snv 2.0E-05 2.8E-05
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
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: 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: rs79746977
rs79746977 		1.000 0.080 2 165907746 stop gained G/A snv 6.4E-05 9.1E-05
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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: C3151186
Disease: NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 12 		0.800 1.000 3 2011 2017
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