Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563907946
rs1563907946
RMRP ; CCDC107
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		CCTCAGCTT 0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005
dbSNP: rs1563907946
rs1563907946
RMRP ; CCDC107
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		CCTCAGCTT 0.700 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002

2005
dbSNP: rs1563907946
rs1563907946
RMRP ; CCDC107
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		CCTCAGCTT 0.700 GeneticVariation CLINVAR Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. 12107819

2002
dbSNP: rs1563907946
rs1563907946
RMRP ; CCDC107
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		CCTCAGCTT 0.700 GeneticVariation CLINVAR RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. 11940090

2002
dbSNP: rs1563907946
rs1563907946
RMRP ; CCDC107
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		CCTCAGCTT 0.700 GeneticVariation CLINVAR Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361

2001