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: rs121434418
rs121434418
BMPR1B
0.810 GeneticVariation UNIPROT Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682

2006
dbSNP: rs121434418
rs121434418
BMPR1B
0.810 GeneticVariation BEFREE Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682

2006
dbSNP: rs121434419
rs121434419
BMPR1B
0.810 GeneticVariation BEFREE Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682

2006
dbSNP: rs121434419
rs121434419
BMPR1B
0.810 GeneticVariation UNIPROT Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682

2006
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: rs121434418
rs121434418
BMPR1B
0.810 GeneticVariation UNIPROT Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231

2003
dbSNP: rs121434419
rs121434419
BMPR1B
0.810 GeneticVariation UNIPROT Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231

2003
dbSNP: rs121434418
rs121434418
BMPR1B
T 0.810 CausalMutation CLINVAR

dbSNP: rs121434419
rs121434419
BMPR1B
A 0.810 CausalMutation CLINVAR

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

dbSNP: rs121434417
rs121434417
BMPR1B
0.800 GeneticVariation UNIPROT A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. 16957682

2006
dbSNP: rs121434417
rs121434417
BMPR1B
0.800 GeneticVariation UNIPROT Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231

2003
dbSNP: rs121434417
rs121434417
BMPR1B
A 0.800 CausalMutation CLINVAR

dbSNP: rs28936683
rs28936683
GDF5 ; GDF5-AS1
0.800 GeneticVariation UNIPROT

dbSNP: rs28936683
rs28936683
GDF5 ; GDF5-AS1
G 0.800 CausalMutation CLINVAR

dbSNP: rs1553941890
rs1553941890
BMPR1B
A 0.700 CausalMutation CLINVAR

dbSNP: rs140047318
rs140047318
BMPR1B
0.010 GeneticVariation BEFREE Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682

2006
dbSNP: rs780280883
rs780280883
BMPR1B
0.010 GeneticVariation BEFREE Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682

2006