Gene: ZDHHC24 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039798
rs886039798
BBS1 ; ZDHHC24
CT 0.700 CausalMutation CLINVAR

dbSNP: rs786204701
rs786204701
BBS1 ; ZDHHC24
C 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in 266 Dutch patients with visual impairment. 28224992

2017
dbSNP: rs786204701
rs786204701
BBS1 ; ZDHHC24
C 0.700 GeneticVariation CLINVAR Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598

2003
dbSNP: rs786204701
rs786204701
BBS1 ; ZDHHC24
C 0.700 GeneticVariation CLINVAR BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. 23143442

2012
dbSNP: rs768443448
rs768443448
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 20177705

2010
dbSNP: rs768443448
rs768443448
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229

2005
dbSNP: rs768443448
rs768443448
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 20876674

2011
dbSNP: rs768443448
rs768443448
BBS1 ; ZDHHC24
T 0.700 CausalMutation CLINVAR

dbSNP: rs768443448
rs768443448
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. 21517826

2011
dbSNP: rs768443448
rs768443448
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556

2003
dbSNP: rs746875134
rs746875134
BBS1 ; ZDHHC24
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: rs587777830
rs587777830
BBS1 ; ZDHHC24
T 0.700 CausalMutation CLINVAR Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556

2003
dbSNP: rs587777830
rs587777830
BBS1 ; ZDHHC24
T 0.700 CausalMutation CLINVAR Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. 26518167

2015
dbSNP: rs587777830
rs587777830
BBS1 ; ZDHHC24
T 0.700 CausalMutation CLINVAR Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255

2002
dbSNP: rs1565291081
rs1565291081
BBS1 ; ZDHHC24
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: rs1565287921
rs1565287921
BBS1 ; ZDHHC24
GC 0.700 CausalMutation CLINVAR Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255

2002
dbSNP: rs1565287512
rs1565287512
BBS1 ; ZDHHC24
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: rs1486200900
rs1486200900
BBS1 ; ZDHHC24
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: rs121917777
rs121917777
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011
dbSNP: rs121917777
rs121917777
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229

2005
dbSNP: rs121917777
rs121917777
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Dissection of epistasis in oligogenic Bardet-Biedl syndrome. 16327777

2006
dbSNP: rs121917777
rs121917777
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. 21517826

2011
dbSNP: rs121917777
rs121917777
BBS1 ; ZDHHC24
T 0.700 CausalMutation CLINVAR Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229

2005
dbSNP: rs121917777
rs121917777
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627

2012
dbSNP: rs121917777
rs121917777
BBS1 ; ZDHHC24
T 0.700 GeneticVariation CLINVAR Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556

2003