CRYBB3, crystallin beta B3, 1417

N. diseases: 10; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777601
rs587777601
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
CUI: C1857853
Disease:
Cataract, Congenital Nuclear, Autosomal Recessive 2 		0.800 GeneticVariation UNIPROT Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 23508780 2013
dbSNP: rs74315490
rs74315490
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
CUI: C1857853
Disease:
Cataract, Congenital Nuclear, Autosomal Recessive 2 		0.800 GeneticVariation UNIPROT Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 23508780 2013
dbSNP: rs587777601
rs587777601
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
CUI: C1857853
Disease:
Cataract, Congenital Nuclear, Autosomal Recessive 2 		0.800 GeneticVariation UNIPROT Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. 15914629 2005
dbSNP: rs74315490
rs74315490
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
CUI: C1857853
Disease:
Cataract, Congenital Nuclear, Autosomal Recessive 2 		0.800 GeneticVariation UNIPROT Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. 15914629 2005
dbSNP: rs587777601
rs587777601
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
CUI: C1857853
Disease:
Cataract, Congenital Nuclear, Autosomal Recessive 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs74315490
rs74315490
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
CUI: C1857853
Disease:
Cataract, Congenital Nuclear, Autosomal Recessive 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs74315490
rs74315490
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
CUI: C0009691
Disease:
Congenital cataract 		C 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
dbSNP: rs864309700
rs864309700
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
CUI: C0009691
Disease:
Congenital cataract 		C 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016