Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769705065
rs769705065
CLUAP1
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		T 0.700 GeneticVariation CLINVAR Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. 28679688

2017