Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568069621
rs1568069621
PIEZO2
A 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
dbSNP: rs1568069621
rs1568069621
PIEZO2
A 0.700 CausalMutation CLINVAR Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 27974811

2017