Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309489
rs864309489
RIPPLY2
C 0.700 GeneticVariation CLINVAR Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. 25343988

2015
dbSNP: rs864309489
rs864309489
RIPPLY2
C 0.700 GeneticVariation CLINVAR Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. 26238661

2015