Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777111
rs587777111
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA
A 0.800 CausalMutation CLINVAR Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. 23707145 2013
dbSNP: rs587777111
rs587777111
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA
0.800 GeneticVariation UNIPROT Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. 23707145 2013