BBS7, Bardet-Biedl syndrome 7, 55212

N. diseases: 47; N. variants: 29
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: rs1553933472
rs1553933472 		1.000 0.120 4 121855547 frameshift variant -/TT ins
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: 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: rs773139166
rs773139166 		1.000 0.120 4 121845671 stop gained TA/- delins 5.2E-05 4.9E-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: rs863224529
rs863224529 		1.000 0.120 4 121828172 frameshift variant TGC/A 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: 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
dbSNP: rs878853352
rs878853352 		4 121828692 stop gained AG/TCT delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs991365297
rs991365297 		1.000 0.120 4 121835242 stop gained A/G;T 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