BBS12, Bardet-Biedl syndrome 12, 166379

N. diseases: 49; N. variants: 43
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: rs587777803
rs587777803 		0.925 0.120 4 122743006 frameshift variant TT/- 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 2007 2019
dbSNP: rs138011813
rs138011813 		0.925 0.120 4 122743394 missense variant C/T snv 3.6E-05 2.0E-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 3 2010 2019
dbSNP: rs752202089
rs752202089 		0.925 0.120 4 122743915 stop gained C/T snv 8.1E-06 7.0E-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 3 2010 2019
dbSNP: rs1269565757
rs1269565757 		0.925 0.120 4 122743267 stop gained C/T snv 1.4E-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 2 2010 2011
dbSNP: rs1553941369
rs1553941369 		0.925 0.120 4 122742900 frameshift variant GT/- 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 2 2007 2014
dbSNP: rs121918327
rs121918327 		0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-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 1 2019 2019
dbSNP: rs1339432710
rs1339432710 		1.000 0.120 4 122742561 frameshift variant -/A 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: rs565073445
rs565073445 		1.000 0.120 4 122741957 missense variant T/C snv 1.2E-05 1.4E-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 1 2019 2019
dbSNP: rs767068756
rs767068756 		1.000 0.120 4 122742947 missense variant A/C;G snv 4.8E-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 1 2019 2019
dbSNP: rs1381368546
rs1381368546 		1.000 0.120 4 122741996 stop gained C/A snv 1.2E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1397714772
rs1397714772 		0.925 0.120 4 122742155 frameshift variant TT/- delins 1.4E-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: rs746478265
rs746478265 		1.000 0.120 4 122743945 frameshift variant ACAG/- 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: rs770872200
rs770872200 		0.925 0.120 4 122742574 frameshift variant -/T ins 1.4E-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