BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908175
rs121908175
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs121908180
rs121908180
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs767373822
rs767373822
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		T 0.700 CausalMutation CLINVAR Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. 30614526 2019
dbSNP: rs770258677
rs770258677
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0035334
Disease:
Retinitis Pigmentosa 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs778090540
rs778090540
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		A 0.700 GeneticVariation CLINVAR Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy. 30293640 2019
dbSNP: rs121908176
rs121908176
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		A 0.700 CausalMutation CLINVAR Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. 27659767 2017
dbSNP: rs1273181642
rs1273181642
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. 28800606 2017
dbSNP: rs138043021
rs138043021
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		G 0.700 GeneticVariation CLINVAR Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. 27659767 2017
dbSNP: rs1555520142
rs1555520142
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		A 0.700 GeneticVariation CLINVAR Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. 27659767 2017
dbSNP: rs201063733
rs201063733
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		C 0.700 GeneticVariation CLINVAR Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. 27659767 2017
dbSNP: rs2303282
rs2303282
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0678222
Disease:
Breast Carcinoma 		G 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs567573386
rs567573386
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		A 0.700 GeneticVariation CLINVAR Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. 27659767 2017
dbSNP: rs1555523584
rs1555523584
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		T 0.700 GeneticVariation CLINVAR Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803 2016
dbSNP: rs193922710
rs193922710
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		A 0.700 GeneticVariation CLINVAR Characterizing the morbid genome of ciliopathies. 27894351 2016
dbSNP: rs567573386
rs567573386
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 GeneticVariation CLINVAR Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. 25988237 2016
dbSNP: rs762047808
rs762047808
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		A 0.700 GeneticVariation CLINVAR Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803 2016
dbSNP: rs779690256
rs779690256
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		A 0.700 CausalMutation CLINVAR Characterizing the morbid genome of ciliopathies. 27894351 2016
dbSNP: rs121908176
rs121908176
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs121908179
rs121908179
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		G 0.700 CausalMutation CLINVAR Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. 25541840 2015
dbSNP: rs138043021
rs138043021
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		G 0.700 CausalMutation CLINVAR Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 25412400 2015
dbSNP: rs138043021
rs138043021
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		G 0.700 GeneticVariation CLINVAR Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 25412400 2015
dbSNP: rs138043021
rs138043021
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		G 0.700 CausalMutation CLINVAR Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. 25541840 2015
dbSNP: rs138043021
rs138043021
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		G 0.700 GeneticVariation CLINVAR Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. 25541840 2015
dbSNP: rs201063733
rs201063733
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		C 0.700 GeneticVariation CLINVAR Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing. 25999675 2015
dbSNP: rs201196733
rs201196733
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936863
Disease:
Bardet-Biedl syndrome 2 (disorder) 		A 0.700 CausalMutation CLINVAR Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome. 26078953 2015