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: rs113624356
rs113624356
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.750 1.000 19 2002 2019
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: 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: rs121917777
rs121917777
0.925 0.120 11 66531692 stop gained G/A;T snv 4.0E-06; 1.6E-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 2002 2012
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: rs768443448
rs768443448
0.925 0.120 11 66526753 stop gained C/G;T snv 4.0E-06; 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 1.000 5 2003 2011
dbSNP: rs587777830
rs587777830
0.925 0.120 11 66523476 frameshift variant A/- 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 3 2002 2015
dbSNP: rs786204701
rs786204701
1.000 0.120 11 66526138 frameshift variant CTTTG/- 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 2003 2017
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: 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: rs113624356
rs113624356
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2002 2019
dbSNP: rs113624356
rs113624356
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
Eye Diseases 0.700 1.000 2 2002 2016
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: rs1057517332
rs1057517332
0.925 0.120 11 66523454 splice acceptor variant A/G 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 2002 2002
dbSNP: rs113624356
rs113624356
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1160669210
rs1160669210
1.000 0.120 11 66526189 stop gained C/T snv 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 1 2019 2019
dbSNP: rs1486200900
rs1486200900
1.000 0.120 11 66529956 splice region variant A/G snv 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 1 2019 2019
dbSNP: rs1565287512
rs1565287512
1.000 0.120 11 66526137 missense variant C/G 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: rs1565287921
rs1565287921
1.000 0.120 11 66526749 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 1.000 1 2002 2002
dbSNP: rs1565291081
rs1565291081
1.000 0.120 11 66531741 missense variant A/G 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: rs746875134
rs746875134
0.925 0.120 11 66523577 splice donor variant G/A;C snv 8.0E-06; 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: rs8432
rs8432
11 66532044 3 prime UTR variant A/G snv 0.55 0.66
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019