rs80356515, FLNB

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Larsen syndrome
CUI: C0175778
Disease: Larsen syndrome
0.700 GeneticVariation UNIPROT A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. 16801345 2007
Larsen syndrome
CUI: C0175778
Disease: Larsen syndrome
0.700 GeneticVariation UNIPROT Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 14991055 2004
Atelosteogenesis, type 1
CUI: C0265283
Disease: Atelosteogenesis, type 1
0.700 CausalMutation CLINVAR