Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
A 0.700 GeneticVariation CLINVAR Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897

2007
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
A 0.700 GeneticVariation CLINVAR RNase MRP RNA and human genetic diseases. 17189938

2007
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
A 0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
A 0.700 GeneticVariation CLINVAR Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene. 14569125

2003
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
A 0.700 GeneticVariation CLINVAR Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. 12107819

2002
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
A 0.700 CausalMutation CLINVAR