Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		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
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		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
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. 21396580

2011
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR RNase MRP RNA and human genetic diseases. 17189938

2007
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR RMRP mutations in cartilage-hair hypoplasia. 16838329

2006
dbSNP: rs1554651508
rs1554651508
RMRP ; CCDC107
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		TTCACAGAGTAGTA 0.700 GeneticVariation CLINVAR Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361

2001