Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs104893962
rs104893962
GJA1
C 0.800 CausalMutation CLINVAR