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: 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: rs1555050268
rs1555050268 		1.000 0.120 11 66531003 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 0
dbSNP: rs773632109
rs773632109 		1.000 0.120 11 66531689 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 0
dbSNP: rs886039798
rs886039798 		0.925 0.120 11 66529902 frameshift variant -/T delins
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs886039798
rs886039798 		0.925 0.120 11 66529902 frameshift variant -/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 0
dbSNP: rs886039798
rs886039798 		0.925 0.120 11 66529902 frameshift variant -/T delins
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 0
dbSNP: rs886039798
rs886039798 		0.925 0.120 11 66529902 frameshift variant -/T delins
CUI: C1441613
Disease: Immune diffusion
Immune diffusion 		0.700 0
dbSNP: rs1555049933
rs1555049933 		1.000 0.120 11 66529870 frameshift variant -/TGCC 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: 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: rs1555050487
rs1555050487 		1.000 0.080 11 66531967 frameshift variant A/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs587777830
rs587777830 		0.925 0.120 11 66523476 frameshift variant A/- 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 0
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: 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: 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: rs8432
rs8432 		11 66532044 3 prime UTR variant A/G snv 0.55 0.66
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs1057517332
rs1057517332 		0.925 0.120 11 66523454 splice acceptor variant A/G 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 0
dbSNP: rs113994180
rs113994180 		1.000 0.120 11 66529817 splice acceptor 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 0
dbSNP: rs1555050394
rs1555050394 		1.000 0.120 11 66531654 splice acceptor variant A/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 0
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: 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: rs1057516901
rs1057516901 		1.000 0.120 11 66529901 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: 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: 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