Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476103
rs199476103
RMRP ; CCDC107
C 0.700 CausalMutation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006
dbSNP: rs727502776
rs727502776
RMRP ; CCDC107
AGCTTCACAGAGTAGT 0.700 GeneticVariation CLINVAR A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. 17015150

2006
dbSNP: rs936059863
rs936059863
RMRP ; CCDC107
C 0.700 CausalMutation CLINVAR Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. 16832578

2006
dbSNP: rs948931144
rs948931144
RMRP ; CCDC107
A 0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006
dbSNP: rs1554651404
rs1554651404
RMRP ; CCDC107
ACGTCCTCAGCTTCACAGAG 0.700 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002

2005
dbSNP: rs1554651413
rs1554651413
RMRP ; CCDC107
CGTCCTCAGCTTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002

2005
dbSNP: rs1554651489
rs1554651489
RMRP ; CCDC107
AGCTTCACAGAGTAG 0.700 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002

2005
dbSNP: rs1554651489
rs1554651489
RMRP ; CCDC107
AGCTTCACAGAGTAG 0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005
dbSNP: rs1554651507
rs1554651507
RMRP ; CCDC107
TTCACAGAGTA 0.700 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002

2005
dbSNP: rs1554651543
rs1554651543
RMRP ; CCDC107
AGAGTAGT 0.700 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002

2005
dbSNP: rs1563907686
rs1563907686
RMRP ; CCDC107
AACCACGTCCTCAGCTTCACAGAGTAGTATTTTATAG 0.700 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002

2005
dbSNP: rs1563907946
rs1563907946
RMRP ; CCDC107
CCTCAGCTT 0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

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

2005
dbSNP: rs199476103
rs199476103
RMRP ; CCDC107
C 0.700 CausalMutation CLINVAR The natural history of severe anemia in cartilage-hair hypoplasia. 16097009

2005
dbSNP: rs727502776
rs727502776
RMRP ; CCDC107
AGCTTCACAGAGTAGT 0.700 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002

2005
dbSNP: rs753874439
rs753874439
RMRP ; CCDC107
T 0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005
dbSNP: rs781730798
rs781730798
RMRP ; CCDC107
CTTCACAGAGTAGT 0.700 GeneticVariation CLINVAR Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. 16254002

2005
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
A 0.700 CausalMutation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005
dbSNP: rs936059863
rs936059863
RMRP ; CCDC107
C 0.700 CausalMutation CLINVAR An effective case of growth hormone treatment on cartilage-hair hypoplasia. 15780958

2005
dbSNP: rs948931144
rs948931144
RMRP ; CCDC107
A 0.700 GeneticVariation CLINVAR Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 16244706

2005
dbSNP: rs199476103
rs199476103
RMRP ; CCDC107
C 0.700 CausalMutation CLINVAR The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases. 12888988

2003
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
A 0.700 CausalMutation CLINVAR Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene. 14569125

2003
dbSNP: rs936059863
rs936059863
RMRP ; CCDC107
C 0.700 CausalMutation CLINVAR RMRP mutations in Japanese patients with cartilage-hair hypoplasia. 14608646

2003
dbSNP: rs1554651489
rs1554651489
RMRP ; CCDC107
AGCTTCACAGAGTAG 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
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