Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.020 GeneticVariation BEFREE Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation. 27214123

2016
dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.020 GeneticVariation BEFREE FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. 25119967

2015