Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918328
rs121918328
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		C 0.800 CausalMutation CLINVAR

dbSNP: rs1057517193
rs1057517193
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		A 0.700 GeneticVariation CLINVAR Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. 24611592

2014
dbSNP: rs1173504533
rs1173504533
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		G 0.700 GeneticVariation 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: rs1195341481
rs1195341481
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		TA 0.700 GeneticVariation CLINVAR

dbSNP: rs121918327
rs121918327
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		T 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: rs121918327
rs121918327
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		T 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: rs121918327
rs121918327
BBS12
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918327
rs121918327
BBS12
CUI: C0271183
Disease: Severe myopia
Severe myopia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918327
rs121918327
BBS12
CUI: C1843367
Disease: Poor school performance
Poor school performance 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918327
rs121918327
BBS12
CUI: C0152427
Disease: Polydactyly
Polydactyly 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918327
rs121918327
BBS12
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918327
rs121918327
BBS12
CUI: C0042798
Disease: Low Vision
Low Vision 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918327
rs121918327
BBS12
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918327
rs121918327
BBS12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918327
rs121918327
BBS12
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918327
rs121918327
BBS12
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1269565757
rs1269565757
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		T 0.700 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011
dbSNP: rs1269565757
rs1269565757
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		T 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: rs1269565757
rs1269565757
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1284876635
rs1284876635
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1339432710
rs1339432710
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		TA 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: rs138011813
rs138011813
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		T 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: rs138011813
rs138011813
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		T 0.700 CausalMutation CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079

2010
dbSNP: rs138011813
rs138011813
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		T 0.700 CausalMutation CLINVAR BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638

2010
dbSNP: rs1381368546
rs1381368546
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR