Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476103
rs199476103
C 0.700 CausalMutation CLINVAR Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897

2007

dbSNP: rs199476103
rs199476103
C 0.700 CausalMutation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006

dbSNP: rs199476103
rs199476103
C 0.700 CausalMutation CLINVAR Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. 12107819

2002