Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		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: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C4021330
Disease: Curved toe phalanx
Curved toe phalanx 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C3808410
Disease: Gastrointestinal malrotation
Gastrointestinal malrotation 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0152427
Disease: Polydactyly
Polydactyly 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0004096
Disease: Asthma
Asthma 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C1843367
Disease: Poor school performance
Poor school performance 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C4022906
Disease: Delayed social development
Delayed social development 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity 		G 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		G 0.750 CausalMutation CLINVAR 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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		G 0.750 CausalMutation CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079

2010
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		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