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rs201330912

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201330912(C;T)
Make rs201330912(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position184354113
GeneCLCN2
is asnp
is mentioned by
dbSNPrs201330912
ebirs201330912
HLIrs201330912
Exacrs201330912
Varsomers201330912
Maprs201330912
PheGenIrs201330912
hapmaprs201330912
1000 genomesrs201330912
hgdprs201330912
ensemblrs201330912
gopubmedrs201330912
geneviewrs201330912
scholarrs201330912
googlers201330912
pharmgkbrs201330912
gwascentralrs201330912
openSNPrs201330912
23andMers201330912
23andMe allrs201330912
SNP Nexus

SNPshotrs201330912
SNPdbers201330912
MSV3drs201330912
GWAS Ctlgrs201330912
Max Magnitude0
ClinVar
Risk rs201330912(T;T)
Alt rs201330912(T;T)
Reference rs201330912(C;C)
Significance Pathogenic
Disease Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Leukoencephalopathy with ataxia
Reversed 0
HGVS NC_000003.11:g.184071901C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087029.4,