rs121908656, TNFRSF11A

N. diseases: 1
Disease: Osteopetrosis, Autosomal Recessive 7 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteopetrosis, Autosomal Recessive 7
CUI: C2676766
Disease: Osteopetrosis, Autosomal Recessive 7
0.800 GeneticVariation UNIPROT Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. 18606301 2008
Osteopetrosis, Autosomal Recessive 7
CUI: C2676766
Disease: Osteopetrosis, Autosomal Recessive 7
0.800 CausalMutation CLINVAR