Gene: RMRP ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1340624774
rs1340624774
RMRP ; CCDC107
GCA 0.700 GeneticVariation CLINVAR

dbSNP: rs1554651404
rs1554651404
RMRP ; CCDC107
ACGTCCTCAGCTTCACAGAG 0.700 GeneticVariation CLINVAR Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361

2001
dbSNP: rs1554651404
rs1554651404
RMRP ; CCDC107
ACGTCCTCAGCTTCACAGAG 0.700 GeneticVariation CLINVAR RNase MRP RNA and human genetic diseases. 17189938

2007
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: rs1554651404
rs1554651404
RMRP ; CCDC107
ACGTCCTCAGCTTCACAGAG 0.700 GeneticVariation CLINVAR Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. 21570718

2011
dbSNP: rs1554651404
rs1554651404
RMRP ; CCDC107
ACGTCCTCAGCTTCACAGAG 0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006
dbSNP: rs1554651413
rs1554651413
RMRP ; CCDC107
CGTCCTCAGCTTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006
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: rs1554651413
rs1554651413
RMRP ; CCDC107
CGTCCTCAGCTTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361

2001
dbSNP: rs1554651413
rs1554651413
RMRP ; CCDC107
CGTCCTCAGCTTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. 21570718

2011
dbSNP: rs1554651413
rs1554651413
RMRP ; CCDC107
CGTCCTCAGCTTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR RNase MRP RNA and human genetic diseases. 17189938

2007
dbSNP: rs1554651489
rs1554651489
RMRP ; CCDC107
AGCTTCACAGAGTAG 0.700 GeneticVariation CLINVAR Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361

2001
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: 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: rs1554651489
rs1554651489
RMRP ; CCDC107
AGCTTCACAGAGTAG 0.700 GeneticVariation CLINVAR Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype. 28094436

2017
dbSNP: rs1554651489
rs1554651489
RMRP ; CCDC107
AGCTTCACAGAGTAG 0.700 GeneticVariation CLINVAR A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. 17015150

2006
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: rs1554651507
rs1554651507
RMRP ; CCDC107
TTCACAGAGTA 0.700 GeneticVariation CLINVAR Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361

2001
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR RNase MRP RNA and human genetic diseases. 17189938

2007
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. 21396580

2011
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361

2001
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature. 24217815

2014
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. 21570718

2011