BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
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: rs1047075022
rs1047075022 		1.000 0.120 16 56506119 splice donor variant C/T snv 4.0E-06 7.0E-06
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1166717771
rs1166717771 		1.000 0.120 16 56485680 stop gained C/A snv
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908174
rs121908174 		0.925 0.120 16 56514574 missense variant A/C snv 4.0E-06
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: rs121908175
rs121908175 		0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs121908175
rs121908175 		0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs121908175
rs121908175 		0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121908175
rs121908175 		0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/6, DIGENIC 		0.700 0
dbSNP: rs121908175
rs121908175 		0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 0
dbSNP: rs121908177
rs121908177 		0.882 0.120 16 56502790 stop gained G/A snv 1.9E-04 9.8E-05
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 0
dbSNP: rs121908179
rs121908179 		0.827 0.120 16 56514487 missense variant T/G snv 4.4E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121908179
rs121908179 		0.827 0.120 16 56514487 missense variant T/G snv 4.4E-05 2.8E-05
CUI: C4016957
Disease: BARDET-BIEDL SYNDROME 1/2, DIGENIC
BARDET-BIEDL SYNDROME 1/2, DIGENIC 		0.700 0
dbSNP: rs121908180
rs121908180 		0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/6, DIGENIC 		0.700 0
dbSNP: rs137854887
rs137854887 		1.000 0.120 16 56510923 splice acceptor variant T/C snv 4.0E-06
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs138043021
rs138043021 		0.851 0.120 16 56496982 missense variant C/G;T snv 1.2E-04; 2.0E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs138043021
rs138043021 		0.851 0.120 16 56496982 missense variant C/G;T snv 1.2E-04; 2.0E-05
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.800 0
dbSNP: rs147030232
rs147030232 		0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs147030232
rs147030232 		0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 0
dbSNP: rs147030232
rs147030232 		0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs147030232
rs147030232 		0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs147030232
rs147030232 		0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.700 0
dbSNP: rs147030232
rs147030232 		0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs147030232
rs147030232 		0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555520220
rs1555520220 		1.000 0.120 16 56485611 stop gained G/A snv
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555520256
rs1555520256 		1.000 0.120 16 56485739 splice acceptor variant C/T snv
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555521489
rs1555521489 		1.000 0.120 16 56497742 splice donor variant C/T snv
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0