BBS1, Bardet-Biedl syndrome 1, 582

N. diseases: 111; N. variants: 70
Disease: Bardet-Biedl syndrome 1 (disorder) ×
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: rs113624356
rs113624356 		0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.810 1.000 13 2002 2014
dbSNP: rs376894444
rs376894444 		0.925 0.120 11 66515586 missense variant G/A snv 2.8E-05 2.8E-05
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 13 2002 2015
dbSNP: rs121917778
rs121917778 		1.000 0.120 11 66530973 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2002 2011
dbSNP: rs200688985
rs200688985 		1.000 0.120 11 66515549 missense variant G/A snv 2.9E-04 7.0E-05
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2002 2011
dbSNP: rs35520756
rs35520756 		1.000 0.120 11 66519725 missense variant G/A snv 7.7E-03 3.1E-02
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2002 2011
dbSNP: rs775990952
rs775990952 		1.000 0.120 11 66511069 missense variant A/G snv 8.0E-06
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2002 2011
dbSNP: rs778225393
rs778225393 		1.000 0.120 11 66530928 missense variant T/A snv 8.0E-06
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2002 2011
dbSNP: rs768443448
rs768443448 		0.925 0.120 11 66526753 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 5 2003 2011
dbSNP: rs1014835928
rs1014835928 		1.000 0.120 11 66526786 stop gained C/T snv 8.0E-06
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2003 2003
dbSNP: rs1057516449
rs1057516449 		1.000 0.120 11 66511090 splice donor variant G/A;C snv
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2010 2012
dbSNP: rs1057516451
rs1057516451 		1.000 0.120 11 66514469 frameshift variant CT/- del
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2003 2011
dbSNP: rs1057517143
rs1057517143 		1.000 0.120 11 66523496 stop gained C/T snv
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2003 2014
dbSNP: rs1555050404
rs1555050404 		1.000 0.120 11 66531685 frameshift variant C/- delins
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2003 2017
dbSNP: rs746875134
rs746875134 		0.925 0.120 11 66523577 splice donor variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2003 2012
dbSNP: rs775769424
rs775769424 		0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2011 2014
dbSNP: rs1057516933
rs1057516933 		1.000 0.120 11 66515692 splice acceptor variant G/C snv
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1555046611
rs1555046611 		1.000 0.120 11 66514590 frameshift variant -/T delins
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs771517209
rs771517209 		1.000 0.120 11 66515732 splice donor variant G/A snv 8.0E-06
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs869025204
rs869025204 		1.000 0.120 11 66511010 splice region variant C/G;T snv 4.0E-06
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs869025205
rs869025205 		1.000 0.120 11 66523784 stop gained C/T snv
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1057516330
rs1057516330 		1.000 0.120 11 66521331 frameshift variant G/- delins
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516371
rs1057516371 		1.000 0.120 11 66523751 frameshift variant C/- delins
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516427
rs1057516427 		1.000 0.120 11 66523480 stop gained C/A snv
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516502
rs1057516502 		1.000 0.120 11 66515859 splice acceptor variant A/G snv
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516507
rs1057516507 		1.000 0.120 11 66511241 splice donor variant T/A snv
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0