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: rs1554651524
rs1554651524
Entrez Id: 6023;203260
Gene Symbol: RMRP;CCDC107
RMRP;CCDC107
CUI: C0220748
Disease:
Cartilage-hair hypoplasia 		TCACAGAGTAG 0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329 2006
dbSNP: rs1554651524
rs1554651524
Entrez Id: 6023;203260
Gene Symbol: RMRP;CCDC107
RMRP;CCDC107
CUI: C0220748
Disease:
Cartilage-hair hypoplasia 		TCACAGAGTAG 0.700 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002 2005