Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554651382
rs1554651382
CCACGTCCTCAGCTTCACAGA 0.700 GeneticVariation CLINVAR Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. 17937437

2007

dbSNP: rs1554651382
rs1554651382
CCACGTCCTCAGCTTCACAGA 0.700 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002

2005

dbSNP: rs1554651382
rs1554651382
CCACGTCCTCAGCTTCACAGA 0.700 GeneticVariation CLINVAR RMRP mutations in Japanese patients with cartilage-hair hypoplasia. 14608646

2003

dbSNP: rs1554651382
rs1554651382
CCACGTCCTCAGCTTCACAGA 0.700 GeneticVariation CLINVAR Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361

2001