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rs142539932

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142539932(C;T)
Make rs142539932(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position143351924
GeneCLCN1
is asnp
is mentioned by
dbSNPrs142539932
ebirs142539932
HLIrs142539932
Exacrs142539932
Varsomers142539932
Maprs142539932
PheGenIrs142539932
hapmaprs142539932
1000 genomesrs142539932
hgdprs142539932
ensemblrs142539932
gopubmedrs142539932
geneviewrs142539932
scholarrs142539932
googlers142539932
pharmgkbrs142539932
gwascentralrs142539932
openSNPrs142539932
23andMers142539932
23andMe allrs142539932
SNP Nexus

SNPshotrs142539932
SNPdbers142539932
MSV3drs142539932
GWAS Ctlgrs142539932
Max Magnitude0
ClinVar
Risk rs142539932(T;T)
Alt rs142539932(T;T)
Reference rs142539932(C;C)
Significance Pathogenic
Disease not provided Myotonia congenita
Variation info
Gene CLCN1
CLNDBN not provided Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143049017C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000180791.2, RCV000195160.1,