BBS10, Bardet-Biedl syndrome 10, 79738

N. diseases: 63; N. variants: 108
Disease: Bardet-Biedl Syndrome ×
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: rs786204671
rs786204671 		0.925 0.120 12 76347254 frameshift variant TTCT/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 10 2006 2019
dbSNP: rs148374859
rs148374859 		0.925 0.120 12 76347712 missense variant G/C snv 2.8E-05 4.2E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 7 2006 2019
dbSNP: rs775950661
rs775950661 		0.925 0.120 12 76345865 frameshift variant CA/- delins 6.4E-05 3.5E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 7 2006 2016
dbSNP: rs375413604
rs375413604 		0.925 0.120 12 76346308 stop gained G/A;C;T snv 2.0E-05; 4.0E-06; 4.0E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 6 2010 2017
dbSNP: rs549625604
rs549625604 		0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 5 2006 2019
dbSNP: rs727503818
rs727503818 		0.882 0.120 12 76346894 frameshift variant T/- delins 6.8E-05 4.9E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 5 2007 2019
dbSNP: rs1156913215
rs1156913215 		0.925 0.120 12 76347219 stop gained G/A;C snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2010 2016
dbSNP: rs1555202584
rs1555202584 		0.925 0.120 12 76346308 frameshift variant G/- del
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2010 2014
dbSNP: rs1565809597
rs1565809597 		1.000 0.120 12 76346530 frameshift variant TTTG/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2010 2016
dbSNP: rs1565809867
rs1565809867 		1.000 0.120 12 76346986 stop gained A/T snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 1966 2016
dbSNP: rs768933093
rs768933093 		0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2006 2015
dbSNP: rs780059308
rs780059308 		0.925 0.120 12 76347073 frameshift variant GACT/- delins 1.6E-05 2.8E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2010 2016
dbSNP: rs1555202806
rs1555202806 		1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2006 2016
dbSNP: rs1340165752
rs1340165752 		1.000 0.120 12 76346842 stop gained A/C snv 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1565809478
rs1565809478 		1.000 0.120 12 76346308 stop gained -/T delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1565809995
rs1565809995 		1.000 0.120 12 76347261 frameshift variant G/- del
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1565810301
rs1565810301 		1.000 0.120 12 76347787 missense variant C/A;T snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs587777837
rs587777837 		0.925 0.120 12 76346940 frameshift variant AA/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs771325212
rs771325212 		1.000 0.120 12 76347023 missense variant T/C snv 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs781421232
rs781421232 		1.000 0.120 12 76347424 inframe deletion GAT/- delins 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1060500996
rs1060500996 		1.000 0.120 12 76347724 frameshift variant ATAAA/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1064796315
rs1064796315 		0.925 0.120 12 76345955 frameshift variant C/- delins 2.8E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555202695
rs1555202695 		1.000 0.120 12 76347338 frameshift variant -/C delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs761101213
rs761101213 		0.925 0.120 12 76347298 frameshift variant A/- del 2.0E-05 2.1E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs863224522
rs863224522 		0.925 0.120 12 76347454 stop gained G/T snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0