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: rs774308815
rs774308815
Entrez Id: 10312;102465451
Gene Symbol: TCIRG1;MIR6753
TCIRG1;MIR6753
CUI: C1850127
Disease:
Osteopetrosis, Autosomal Recessive 1 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs774308815
rs774308815
Entrez Id: 10312;102465451
Gene Symbol: TCIRG1;MIR6753
TCIRG1;MIR6753
CUI: C1850127
Disease:
Osteopetrosis, Autosomal Recessive 1 		T 0.700 GeneticVariation CLINVAR The mutational spectrum of human malignant autosomal recessive osteopetrosis. 11532986 2001
dbSNP: rs774308815
rs774308815
Entrez Id: 10312;102465451
Gene Symbol: TCIRG1;MIR6753
TCIRG1;MIR6753
CUI: C1850127
Disease:
Osteopetrosis, Autosomal Recessive 1 		C 0.700 GeneticVariation CLINVAR