MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
Disease: BARDET-BIEDL SYNDROME 6 ×
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: rs74315396
rs74315396 		0.827 0.240 20 10413405 missense variant T/C snv 6.8E-05 1.1E-04
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 17 2000 2017
dbSNP: rs74315398
rs74315398 		1.000 0.120 20 10412685 missense variant A/G snv 6.4E-05 6.3E-05
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 17 2000 2017
dbSNP: rs74315399
rs74315399 		0.925 0.240 20 10413346 missense variant T/C snv 2.0E-05 1.4E-05
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 17 2000 2017
dbSNP: rs74315394
rs74315394 		0.851 0.440 20 10412791 missense variant C/A snv 5.2E-03 5.0E-03
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.710 1.000 18 2000 2017
dbSNP: rs1297985227
rs1297985227 		0.925 0.120 20 10413220 missense variant A/G snv 4.0E-06
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 17 2000 2017
dbSNP: rs142327258
rs142327258 		1.000 0.120 20 10405486 missense variant C/A;G;T snv 8.0E-06; 2.4E-05; 3.0E-04
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 17 2000 2017
dbSNP: rs281797259
rs281797259 		0.925 0.120 20 10405464 missense variant C/G snv
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 17 2000 2017
dbSNP: rs756083063
rs756083063 		1.000 0.120 20 10412619 missense variant G/A snv 4.0E-06
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 17 2000 2017
dbSNP: rs766132697
rs766132697 		1.000 0.120 20 10413394 missense variant C/G snv 3.6E-05 6.3E-05
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 17 2000 2017
dbSNP: rs779116830
rs779116830 		1.000 0.120 20 10408755 missense variant C/T snv 1.2E-05
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 17 2000 2017
dbSNP: rs138111422
rs138111422 		1.000 0.120 20 10413051 missense variant C/G;T snv 8.0E-06
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs149051148
rs149051148 		1.000 0.120 20 10405407 missense variant C/T snv 3.1E-04 1.4E-04
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28937875
rs28937875 		1.000 0.120 20 10413360 missense variant C/T snv 1.2E-05
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587777827
rs587777827 		1.000 0.120 20 10413234 frameshift variant A/- delins
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs74315397
rs74315397 		0.925 0.120 20 10412723 stop gained A/C;G;T snv 4.0E-05
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs760185677
rs760185677 		1.000 0.120 20 10412806 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs912923677
rs912923677 		0.851 0.240 20 10407704 missense variant T/C snv 4.0E-06
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs281797258
rs281797258 		0.882 0.400 20 10413265 missense variant G/A snv 4.0E-06 2.4E-04
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005