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: rs1554995341
rs1554995341
Entrez Id: 10312;102465451
Gene Symbol: TCIRG1;MIR6753
TCIRG1;MIR6753
CUI: C1850127
Disease:
Osteopetrosis, Autosomal Recessive 1 		CG 0.700 GeneticVariation CLINVAR Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications. 22231430 2012