Disease: Hamman-Rich syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876657633
rs876657633
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		TGG 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations for infants and children with ABCA3 deficiency. 24871971 2014
dbSNP: rs876657633
rs876657633
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		TGG 0.700 GeneticVariation CLINVAR Clinical, radiological and pathological features of ABCA3 mutations in children. 18024538 2008