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: 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: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation 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: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		G 0.750 CausalMutation 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: 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: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598

2003
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		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
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556

2003
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		G 0.750 CausalMutation CLINVAR Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556

2003
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		G 0.750 CausalMutation CLINVAR Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 15314642

2004
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		G 0.750 CausalMutation CLINVAR Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. 17980398

2008
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		G 0.810 CausalMutation CLINVAR A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 18032602

2007
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		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