Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753874439
rs753874439
RMRP ; CCDC107
T 0.700 GeneticVariation CLINVAR Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. 20112607

2010
dbSNP: rs753874439
rs753874439
RMRP ; CCDC107
T 0.700 GeneticVariation CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272

2008
dbSNP: rs753874439
rs753874439
RMRP ; CCDC107
T 0.700 GeneticVariation CLINVAR Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 17701897

2007
dbSNP: rs753874439
rs753874439
RMRP ; CCDC107
T 0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005
dbSNP: rs753874439
rs753874439
RMRP ; CCDC107
T 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