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: rs1392364437
rs1392364437
Entrez Id: 10312;102465451
Gene Symbol: TCIRG1;MIR6753
TCIRG1;MIR6753
CUI: C1850127
Disease:
Osteopetrosis, Autosomal Recessive 1 		C 0.700 CausalMutation CLINVAR Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. 18715141 2009
dbSNP: rs1392364437
rs1392364437
Entrez Id: 10312;102465451
Gene Symbol: TCIRG1;MIR6753
TCIRG1;MIR6753
CUI: C1850127
Disease:
Osteopetrosis, Autosomal Recessive 1 		C 0.700 CausalMutation CLINVAR The mutational spectrum of human malignant autosomal recessive osteopetrosis. 11532986 2001