Gene: GJA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554200992
rs1554200992
GJA1
0.810 GeneticVariation BEFREE Genetic analysis revealed the presence of c.119C>T (p.Ala40Val) in GJA1, which is responsible for ODDD, but not found in the control population. 30628995

2019
dbSNP: rs1554201043
rs1554201043
GJA1
0.810 GeneticVariation BEFREE Interestingly, the enhanced levels of ECM-associated proteins in ODDD V216L fibroblasts is not only a consequence of increased ECM gene expression, but also due to an apparent deficit in collagen-I secretion which may further contribute to impaired collagen gel contraction in ODDD fibroblasts. 26349540

2015
dbSNP: rs104893961
rs104893961
GJA1
0.810 GeneticVariation UNIPROT A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 16816024

2006
dbSNP: rs1554200992
rs1554200992
GJA1
0.810 GeneticVariation UNIPROT A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 16816024

2006
dbSNP: rs1554201043
rs1554201043
GJA1
0.810 GeneticVariation UNIPROT A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 16816024

2006
dbSNP: rs267606845
rs267606845
GJA1
0.810 GeneticVariation UNIPROT A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 16816024

2006
dbSNP: rs104893961
rs104893961
GJA1
0.810 GeneticVariation BEFREE Cx43 proteins containing ODDD mutations found in the N-terminus (Y17S), first transmembrane domain (G21R, A40V), second transmembrane domain (L90V), and cytoplasmic loop (I130T, K134E) do form gap junction plaques but show compromised channel function. 15879313

2005
dbSNP: rs267606845
rs267606845
GJA1
0.810 GeneticVariation BEFREE A different base change at the same codon (p.R76S) leads to a complete dominant ODDD phenotype. 14974090

2004
dbSNP: rs104893961
rs104893961
GJA1
C 0.810 CausalMutation CLINVAR

dbSNP: rs1554200992
rs1554200992
GJA1
T 0.810 CausalMutation CLINVAR

dbSNP: rs1554201043
rs1554201043
GJA1
T 0.810 CausalMutation CLINVAR

dbSNP: rs267606845
rs267606845
GJA1
A 0.810 CausalMutation CLINVAR

dbSNP: rs267606845
rs267606845
GJA1
A 0.810 GeneticVariation CLINVAR

dbSNP: rs104893962
rs104893962
GJA1
0.800 GeneticVariation UNIPROT A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 16816024

2006
dbSNP: rs104893963
rs104893963
GJA1
0.800 GeneticVariation UNIPROT A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 16816024

2006
dbSNP: rs104893966
rs104893966
GJA1
0.800 GeneticVariation UNIPROT A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 16816024

2006
dbSNP: rs121912969
rs121912969
GJA1
0.800 GeneticVariation UNIPROT A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 16816024

2006
dbSNP: rs28931601
rs28931601
GJA1
0.800 GeneticVariation UNIPROT A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 16816024

2006
dbSNP: rs397518464
rs397518464
GJA1
0.800 GeneticVariation UNIPROT A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 16816024

2006
dbSNP: rs104893962
rs104893962
GJA1
C 0.800 CausalMutation CLINVAR

dbSNP: rs104893963
rs104893963
GJA1
A 0.800 CausalMutation CLINVAR

dbSNP: rs104893966
rs104893966
GJA1
C 0.800 CausalMutation CLINVAR

dbSNP: rs121912969
rs121912969
GJA1
C 0.800 CausalMutation CLINVAR

dbSNP: rs28931601
rs28931601
GJA1
A 0.800 CausalMutation CLINVAR

dbSNP: rs397518464
rs397518464
GJA1
G 0.800 CausalMutation CLINVAR