BBS10, Bardet-Biedl syndrome 10, 79738

N. diseases: 63; N. variants: 108
Disease: Bardet-Biedl Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1340165752
rs1340165752
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		C 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: rs148374859
rs148374859
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		C 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: rs1565809995
rs1565809995
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
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: rs1565810301
rs1565810301
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 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: rs549625604
rs549625604
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		CA 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: rs549625604
rs549625604
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		CA 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs587777837
rs587777837
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		G 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: rs727503818
rs727503818
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		G 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: rs781421232
rs781421232
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
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: rs786204671
rs786204671
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 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: rs375413604
rs375413604
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		T 0.700 CausalMutation CLINVAR A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. 28808579 2017
dbSNP: rs1156913215
rs1156913215
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 27486776 2016
dbSNP: rs1555202806
rs1555202806
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		T 0.700 CausalMutation CLINVAR Bardet-Biedl Syndrome. 27385962 2016
dbSNP: rs1565809597
rs1565809597
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 27486776 2016
dbSNP: rs1565809867
rs1565809867
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		T 0.700 CausalMutation CLINVAR Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 27486776 2016
dbSNP: rs375413604
rs375413604
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		T 0.700 CausalMutation CLINVAR Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis. 27788217 2016
dbSNP: rs375413604
rs375413604
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		T 0.700 CausalMutation CLINVAR Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 27486776 2016
dbSNP: rs549625604
rs549625604
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		CA 0.700 CausalMutation CLINVAR Bardet-Biedl Syndrome. 27385962 2016
dbSNP: rs775950661
rs775950661
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 27486776 2016
dbSNP: rs780059308
rs780059308
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		T 0.700 CausalMutation CLINVAR Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 27486776 2016
dbSNP: rs786204671
rs786204671
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 27486776 2016
dbSNP: rs786204671
rs786204671
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Bardet Biedl syndrome in South Africa: A single founder mutation. 27245532 2016
dbSNP: rs1156913215
rs1156913215
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 25982971 2015
dbSNP: rs1565809597
rs1565809597
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 25982971 2015
dbSNP: rs375413604
rs375413604
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		T 0.700 CausalMutation CLINVAR Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 25982971 2015