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: rs1230629953
rs1230629953
Entrez Id: 6023;203260
Gene Symbol: RMRP;CCDC107
RMRP;CCDC107
CUI: C0220748
Disease:
Cartilage-hair hypoplasia 		TCAGCTTCACAGTCCC 0.700 GeneticVariation CLINVAR