Disease: Cartilage-hair hypoplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554651153
rs1554651153
Entrez Id: 6023;203260
Gene Symbol: RMRP;CCDC107
RMRP;CCDC107
CUI: C0220748
Disease:
Cartilage-hair hypoplasia 		A 0.700 GeneticVariation CLINVAR CHIPS for genetic testing to improve a regional clinical genetic service. 25046119 2015
dbSNP: rs1554651153
rs1554651153
Entrez Id: 6023;203260
Gene Symbol: RMRP;CCDC107
RMRP;CCDC107
CUI: C0220748
Disease:
Cartilage-hair hypoplasia 		A 0.700 GeneticVariation CLINVAR RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs. 23315997 2013
dbSNP: rs1554651153
rs1554651153
Entrez Id: 6023;203260
Gene Symbol: RMRP;CCDC107
RMRP;CCDC107
CUI: C0220748
Disease:
Cartilage-hair hypoplasia 		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
Entrez Id: 6023;203260
Gene Symbol: RMRP;CCDC107
RMRP;CCDC107
CUI: C0220748
Disease:
Cartilage-hair hypoplasia 		A 0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329 2006
dbSNP: rs1554651153
rs1554651153
Entrez Id: 6023;203260
Gene Symbol: RMRP;CCDC107
RMRP;CCDC107
CUI: C0220748
Disease:
Cartilage-hair hypoplasia 		A 0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706 2005