BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
Disease: Bardet-Biedl syndrome 2 (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: rs121908179
rs121908179 		0.827 0.120 16 56514487 missense variant T/G snv 4.4E-05 2.8E-05
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 11 2001 2014
dbSNP: rs121908174
rs121908174 		0.925 0.120 16 56514574 missense variant A/C snv 4.0E-06
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 10 2001 2017
dbSNP: rs121908181
rs121908181 		1.000 0.120 16 56511214 missense variant C/A snv
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 8 2001 2011
dbSNP: rs121908178
rs121908178 		1.000 0.120 16 56502454 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2001 2011
dbSNP: rs138043021
rs138043021 		0.851 0.120 16 56496982 missense variant C/G;T snv 1.2E-04; 2.0E-05
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2001 2017
dbSNP: rs370581600
rs370581600 		1.000 0.120 16 56497867 missense variant G/A snv 1.4E-05
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2001 2011
dbSNP: rs532361142
rs532361142 		1.000 0.120 16 56485721 missense variant C/T snv 4.0E-05 3.5E-05
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2001 2011
dbSNP: rs544773389
rs544773389 		1.000 0.120 16 56502453 missense variant C/T snv
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2001 2011
dbSNP: rs750506474
rs750506474 		1.000 0.120 16 56514557 missense variant C/A snv 8.0E-06 7.0E-06
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 8 2001 2011
dbSNP: rs121908177
rs121908177 		0.882 0.120 16 56502790 stop gained G/A snv 1.9E-04 9.8E-05
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 5 2001 2011
dbSNP: rs778090540
rs778090540 		0.925 0.120 16 56499867 stop gained G/A snv 2.4E-05 7.0E-06
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 5 2003 2019
dbSNP: rs567573386
rs567573386 		0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2011 2017
dbSNP: rs764164384
rs764164384 		0.925 0.120 16 56502799 stop gained G/A snv 1.6E-05
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2001 2012
dbSNP: rs121908176
rs121908176 		0.925 0.120 16 56514623 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2001 2017
dbSNP: rs201063733
rs201063733 		0.925 0.120 16 56497063 stop gained G/C snv 8.0E-06 7.0E-06
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs201196733
rs201196733 		0.925 0.120 16 56497013 stop gained G/A;C snv 2.8E-05; 4.0E-06
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2011 2015
dbSNP: rs779690256
rs779690256 		0.925 0.120 16 56506137 stop gained G/A snv 2.8E-05 7.0E-06
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2005 2016
dbSNP: rs121908175
rs121908175 		0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs121908180
rs121908180 		0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1273181642
rs1273181642 		0.925 0.120 16 56510004 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1367927635
rs1367927635 		1.000 0.120 16 56510006 frameshift variant A/- del 8.0E-06 1.4E-05
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1368647604
rs1368647604 		1.000 0.120 16 56511228 frameshift variant A/- del 4.0E-06
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2005 2005
dbSNP: rs147030232
rs147030232 		0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1555520142
rs1555520142 		1.000 0.120 16 56484868 splice acceptor variant C/A snv
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555521379
rs1555521379 		1.000 0.120 16 56496967 frameshift variant AT/- del
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2005 2005