Gene: BBS5 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908581
rs121908581
BBS5
A 0.710 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1272140892
rs1272140892
BBS5
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: rs1559121920
rs1559121920
BBS5
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: rs772757329
rs772757329
BBS5
T 0.700 CausalMutation CLINVAR The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan. 26325687

2015
dbSNP: rs1054138918
rs1054138918
BBS5
C 0.700 GeneticVariation CLINVAR Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. 15137946

2004
dbSNP: rs1466289570
rs1466289570
BBS5
A 0.700 GeneticVariation CLINVAR Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. 15137946

2004
dbSNP: rs786205636
rs786205636
BBS5
A 0.700 GeneticVariation CLINVAR