Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752934195
rs752934195
RMRP ; CCDC107
CCACGTCCT 0.700 GeneticVariation CLINVAR Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. 17937437

2007
dbSNP: rs752934195
rs752934195
RMRP ; CCDC107
CCACGTCCT 0.700 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002

2005
dbSNP: rs752934195
rs752934195
RMRP ; CCDC107
CCACGTCCT 0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005
dbSNP: rs752934195
rs752934195
RMRP ; CCDC107
CCACGTCCT 0.700 GeneticVariation CLINVAR Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361

2001
dbSNP: rs752934195
rs752934195
RMRP ; CCDC107
CCACGTCCT 0.700 GeneticVariation CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272

2008