Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. 27569544

2016
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 25663137

2015
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR RNase MRP and disease. 21956908

2012
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. 21396580

2011
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272

2008
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897

2007
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR RNase MRP RNA and human genetic diseases. 17189938

2007
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 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