Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554651506
rs1554651506
TTCACAGA 0.700 GeneticVariation CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272

2008

dbSNP: rs1554651506
rs1554651506
TTCACAGA 0.700 GeneticVariation CLINVAR Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. 17937437

2007

dbSNP: rs1554651506
rs1554651506
TTCACAGA 0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006

dbSNP: rs1554651506
rs1554651506
TTCACAGA 0.700 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002

2005

dbSNP: rs1554651506
rs1554651506
TTCACAGA 0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005

dbSNP: rs1554651506
rs1554651506
TTCACAGA 0.700 GeneticVariation CLINVAR RMRP mutations in Japanese patients with cartilage-hair hypoplasia. 14608646

2003

dbSNP: rs1554651506
rs1554651506
TTCACAGA 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: rs1554651506
rs1554651506
TTCACAGA 0.700 GeneticVariation CLINVAR Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361

2001