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rs80356687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2.5 carrier of a myotonia congenita allele; variable in degree
(T;T) 6 Myotonia congenita; quite variable in degree
ReferenceGRCh38 38.1/141
Chromosome7
Position143324442
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356687
ebirs80356687
HLIrs80356687
Exacrs80356687
Varsomers80356687
Maprs80356687
PheGenIrs80356687
hapmaprs80356687
1000 genomesrs80356687
hgdprs80356687
ensemblrs80356687
gopubmedrs80356687
geneviewrs80356687
scholarrs80356687
googlers80356687
pharmgkbrs80356687
gwascentralrs80356687
openSNPrs80356687
23andMers80356687
23andMe allrs80356687
SNP Nexus

SNPshotrs80356687
SNPdbers80356687
MSV3drs80356687
GWAS Ctlgrs80356687
Max Magnitude6
ClinVar
Risk rs80356687(T;T)
Alt rs80356687(T;T)
Reference rs80356687(C;C)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143021535C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020114.1,