Disease: Osteopetrosis, Autosomal Recessive 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748659068
rs748659068
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1
CUI: C1850127
Disease:
Osteopetrosis, Autosomal Recessive 1 		T 0.700 CausalMutation CLINVAR Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy. 26777052 2015
dbSNP: rs748659068
rs748659068
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1
CUI: C1850127
Disease:
Osteopetrosis, Autosomal Recessive 1 		T 0.700 CausalMutation CLINVAR Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis. 12507890 2003