Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554651153
rs1554651153
A 0.700 GeneticVariation CLINVAR CHIPS for genetic testing to improve a regional clinical genetic service. 25046119

2015

dbSNP: rs1554651153
rs1554651153
A 0.700 GeneticVariation CLINVAR RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs. 23315997

2013

dbSNP: rs1554651153
rs1554651153
A 0.700 GeneticVariation CLINVAR Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. 16832578

2006

dbSNP: rs1554651153
rs1554651153
A 0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006

dbSNP: rs1554651153
rs1554651153
A 0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005