Disease: Bardet-Biedl syndrome 3 ×
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: rs104893679
rs104893679 		1.000 0.120 3 97791797 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 3 2004 2013
dbSNP: rs104893680
rs104893680 		1.000 0.120 3 97768199 missense variant C/G;T snv 4.0E-06
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 3 2004 2013
dbSNP: rs104893681
rs104893681 		1.000 0.120 3 97791800 missense variant T/C;G snv 4.0E-06
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 3 2004 2013
dbSNP: rs1559679965
rs1559679965 		0.925 0.120 3 97780221 splice donor variant G/C snv
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs104893678
rs104893678 		0.925 0.120 3 97788004 stop gained C/T snv 8.0E-06
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057515576
rs1057515576 		0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs771054395
rs771054395 		0.882 0.120 3 97784981 missense variant T/C snv 3.2E-05 2.1E-05
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0