Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751921616
rs751921616
RMRP ; CCDC107
CAGCTTCACAGAGT 0.700 GeneticVariation CLINVAR Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation. 28743979

2017
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. 27569544

2016
dbSNP: rs1554651153
rs1554651153
RMRP ; CCDC107
A 0.700 GeneticVariation CLINVAR CHIPS for genetic testing to improve a regional clinical genetic service. 25046119

2015
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 25663137

2015
dbSNP: rs727502776
rs727502776
RMRP ; CCDC107
AGCTTCACAGAGTAGT 0.700 GeneticVariation CLINVAR [Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases]. 25616543

2015
dbSNP: rs727502776
rs727502776
RMRP ; CCDC107
AGCTTCACAGAGTAGT 0.700 GeneticVariation CLINVAR Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 25663137

2015
dbSNP: rs772443941
rs772443941
RMRP ; CCDC107
A 0.700 CausalMutation CLINVAR Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 25663137

2015
dbSNP: rs1554651153
rs1554651153
RMRP ; CCDC107
A 0.700 GeneticVariation CLINVAR RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs. 23315997

2013
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR RNase MRP and disease. 21956908

2012
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. 21396580

2011
dbSNP: rs727502777
rs727502777
RMRP ; CCDC107
CCTCAGCTTCACAGAGTA 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: rs920074067
rs920074067
RMRP ; CCDC107
CTCAGCTTCACAGAGTAG 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: rs1156413585
rs1156413585
RMRP ; CCDC107
T 0.700 GeneticVariation CLINVAR Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. 20375313

2010
dbSNP: rs1554651499
rs1554651499
RMRP ; CCDC107
CTTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR Novel mutation in boy with cartilage-hair hypoplasia. 21146796

2010
dbSNP: rs1554651543
rs1554651543
RMRP ; CCDC107
AGAGTAGT 0.700 CausalMutation CLINVAR An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency. 21063072

2010
dbSNP: rs1554651543
rs1554651543
RMRP ; CCDC107
AGAGTAGT 0.700 GeneticVariation CLINVAR An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency. 21063072

2010
dbSNP: rs753874439
rs753874439
RMRP ; CCDC107
T 0.700 GeneticVariation CLINVAR Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. 20112607

2010
dbSNP: rs772443941
rs772443941
RMRP ; CCDC107
A 0.700 CausalMutation CLINVAR Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. 20375313

2010
dbSNP: rs772443941
rs772443941
RMRP ; CCDC107
A 0.700 CausalMutation CLINVAR Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. 19626344

2009
dbSNP: rs1156413585
rs1156413585
RMRP ; CCDC107
T 0.700 GeneticVariation CLINVAR Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. 18164267

2008
dbSNP: rs1554651506
rs1554651506
RMRP ; CCDC107
TTCACAGA 0.700 GeneticVariation CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272

2008
dbSNP: rs1563907883
rs1563907883
RMRP ; CCDC107
GTCCTCAGCTTCACAGAGTAGT 0.700 GeneticVariation CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272

2008
dbSNP: rs551450545
rs551450545
RMRP ; CCDC107
C 0.700 GeneticVariation CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272

2008
dbSNP: rs727502776
rs727502776
RMRP ; CCDC107
AGCTTCACAGAGTAGT 0.700 GeneticVariation CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272

2008
dbSNP: rs752934195
rs752934195
RMRP ; CCDC107
CCACGTCCT 0.700 GeneticVariation CLINVAR Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 18804272

2008