Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777453
rs587777453
PIEZO2
0.800 GeneticVariation UNIPROT Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473

2014
dbSNP: rs587777453
rs587777453
PIEZO2
C 0.800 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473

2014
dbSNP: rs587777453
rs587777453
PIEZO2
0.800 GeneticVariation UNIPROT Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. 23487782

2013