BBS7, Bardet-Biedl syndrome 7, 55212

N. diseases: 47; N. variants: 29
Disease: BARDET-BIEDL SYNDROME 7 ×
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: rs754579374
rs754579374 		1.000 0.120 4 121861658 missense variant C/T snv 2.0E-05 4.2E-05
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2003 2011
dbSNP: rs869025207
rs869025207 		1.000 0.120 4 121847492 missense variant G/C snv
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1057519027
rs1057519027 		1.000 0.120 4 121828271 splice acceptor variant T/G snv 4.0E-06
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs119466001
rs119466001 		1.000 0.120 4 121847473 missense variant T/C snv 2.8E-05 9.8E-05
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs119466002
rs119466002 		0.882 0.120 4 121854790 missense variant G/A snv 8.0E-06 6.3E-05
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1221499782
rs1221499782 		1.000 0.120 4 121863257 missense variant C/T snv 7.0E-06
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587777812
rs587777812 		1.000 0.120 4 121854710 frameshift variant CTTT/- delins
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587777836
rs587777836 		1.000 0.120 4 121833310 inframe deletion GGAACT/- delins 1.6E-05
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs672601379
rs672601379 		1.000 0.120 4 121828192 frameshift variant TA/G delins 9.2E-05
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs761403504
rs761403504 		1.000 0.120 4 121853086 missense variant C/A;T snv 4.0E-06
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs863224530
rs863224530 		0.925 0.120 4 121859130 frameshift variant GT/- del
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0