Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1397714772
rs1397714772
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1397714772
rs1397714772
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1444062882
rs1444062882
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553941150
rs1553941150
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553941255
rs1553941255
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553941258
rs1553941258
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		TG 0.700 GeneticVariation CLINVAR

dbSNP: rs1553941279
rs1553941279
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		CT 0.700 GeneticVariation CLINVAR

dbSNP: rs1553941304
rs1553941304
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553941312
rs1553941312
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs1553941369
rs1553941369
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		C 0.700 CausalMutation CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405

2014
dbSNP: rs1553941369
rs1553941369
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		C 0.700 CausalMutation CLINVAR Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. 17160889

2007
dbSNP: rs1553941369
rs1553941369
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553941391
rs1553941391
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553941404
rs1553941404
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553941433
rs1553941433
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		AGTGTGAT 0.700 GeneticVariation CLINVAR

dbSNP: rs1553941540
rs1553941540
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		A 0.700 GeneticVariation CLINVAR A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies. 20648243

2010
dbSNP: rs1553941580
rs1553941580
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553941580
rs1553941580
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs565073445
rs565073445
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		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: rs587777801
rs587777801
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587777802
rs587777802
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587777803
rs587777803
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		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: rs587777803
rs587777803
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. 24611592

2014
dbSNP: rs587777803
rs587777803
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. 20827784

2010
dbSNP: rs587777803
rs587777803
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. 17160889

2007