Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1392364437
rs1392364437
TCIRG1 ; MIR6753
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
TCIRG1 ; MIR6753
C 0.700 CausalMutation CLINVAR The mutational spectrum of human malignant autosomal recessive osteopetrosis. 11532986

2001