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: rs119466002
rs119466002 		0.882 0.120 4 121854790 missense variant G/A snv 8.0E-06 6.3E-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 2013
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: rs760165634
rs760165634 		1.000 0.120 4 121854707 frameshift variant CTCT/- 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 1.000 2 2009 2015
dbSNP: rs10084948
rs10084948 		4 121844494 intron variant C/T snv 0.30
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1048433
rs1048433 		4 121827841 3 prime UTR variant A/C;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12510839
rs12510839 		4 121839813 intron variant G/A snv 0.29
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs13119055
rs13119055 		4 121834007 intron variant T/C snv 0.29
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs13145213
rs13145213 		4 121828924 intron variant C/T snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs13152701
rs13152701 		4 121829906 intron variant G/A snv 0.29
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1560638613
rs1560638613 		1.000 0.120 4 121828618 splice donor variant C/A 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 2003 2003
dbSNP: rs1560658189
rs1560658189 		1.000 0.120 4 121853042 stop gained T/A 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 2003 2003
dbSNP: rs17005256
rs17005256 		4 121834090 intron variant A/G snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3762840
rs3762840 		4 121825441 3 prime UTR variant A/T snv 0.29
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs863224530
rs863224530 		0.925 0.120 4 121859130 frameshift variant GT/- 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 1 2019 2019
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: rs9995319
rs9995319 		4 121849522 intron variant G/C snv 0.29
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs9995319
rs9995319 		4 121849522 intron variant G/C snv 0.29
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
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: rs119466002
rs119466002 		0.882 0.120 4 121854790 missense variant G/A snv 8.0E-06 6.3E-05
CUI: C4016435
Disease: BARDET-BIEDL SYNDROME 1/7, DIGENIC
BARDET-BIEDL SYNDROME 1/7, DIGENIC 		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: 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