Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912466
rs121912466
ITGB4
0.800 GeneticVariation UNIPROT A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? 10792571

2000
dbSNP: rs121912466
rs121912466
ITGB4
A 0.800 CausalMutation CLINVAR