Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514668
rs397514668
GDF5 ; GDF5-AS1
0.810 GeneticVariation UNIPROT New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance. 21976273

2012
dbSNP: rs397514668
rs397514668
GDF5 ; GDF5-AS1
0.810 GeneticVariation BEFREE We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals. 18203755

2008
dbSNP: rs397514668
rs397514668
GDF5 ; GDF5-AS1
0.810 GeneticVariation UNIPROT We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals. 18203755

2008
dbSNP: rs397514668
rs397514668
GDF5 ; GDF5-AS1
0.810 GeneticVariation UNIPROT Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. 16127465

2005
dbSNP: rs397514668
rs397514668
GDF5 ; GDF5-AS1
T 0.810 CausalMutation CLINVAR