Gene: CLCN7 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1291061962
rs1291061962
CLCN7
0.010 GeneticVariation BEFREE Our data indicated that the mutation CLCN7 (R286W) may be a cause of the osteopetrosis family. 31412925

2019
dbSNP: rs387907576
rs387907576
CLCN7
0.010 GeneticVariation BEFREE Collectively, our data further indicated that mutation (Y99C) may be a cause of osteopetrosis, and highlights the use of whole exome sequencing as a valuable approach to identifying disease mutations in a cost and time efficient manner. 23296056

2013
dbSNP: rs397515539
rs397515539
CLCN7
0.010 GeneticVariation BEFREE The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect. 20830208

2010