Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893678
rs104893678
ARL6
T 0.700 CausalMutation CLINVAR

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: rs1057516533
rs1057516533
BBS1 ; ZDHHC24
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517332
rs1057517332
BBS1 ; ZDHHC24
G 0.700 GeneticVariation CLINVAR Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255

2002
dbSNP: rs1060500996
rs1060500996
BBS10
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503690
rs1060503690
BBS1 ; ZDHHC24
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503692
rs1060503692
BBS4
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064796315
rs1064796315
BBS10
A 0.700 CausalMutation CLINVAR

dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
A 0.700 CausalMutation CLINVAR The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype. 21775502

2011
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
A 0.700 CausalMutation CLINVAR Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite. 23142638

2013
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
A 0.700 CausalMutation CLINVAR Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. 11822024

2002
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
A 0.700 CausalMutation CLINVAR Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. 15786463

2005
dbSNP: rs111033571
rs111033571
TRIM32 ; ASTN2
T 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carried the p.M390R variant. 23143442

2012
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.750 GeneticVariation BEFREE As exemplified in this study by the identification of a homozygous p.M390R variant in a control individual and in unaffected parents of BBS patients in other studies, cis - or trans -acting modifiers may influence the disease phenotype. 23143442

2012
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598

2003
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands. 18669544

2009
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.750 GeneticVariation BEFREE Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. 22940089

2012
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803

2016
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. 12837689

2003
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. 18766993

2008
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. 30614526

2019
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 22581970

2012
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.750 CausalMutation CLINVAR A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 18032602

2007