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rs80356701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 4 Myotonia congenita; Thomsen's disease; quite variable in degree
(T;T) 0 common in clinvar


Make rs80356701(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position143330838
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356701
ebirs80356701
HLIrs80356701
Exacrs80356701
Varsomers80356701
Maprs80356701
PheGenIrs80356701
hapmaprs80356701
1000 genomesrs80356701
hgdprs80356701
ensemblrs80356701
gopubmedrs80356701
geneviewrs80356701
scholarrs80356701
googlers80356701
pharmgkbrs80356701
gwascentralrs80356701
openSNPrs80356701
23andMers80356701
23andMe allrs80356701
SNP Nexus

SNPshotrs80356701
SNPdbers80356701
MSV3drs80356701
GWAS Ctlgrs80356701
Max Magnitude4
ClinVar
Risk rs80356701(C;C)
Alt rs80356701(C;C)
Reference rs80356701(T;T)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143027931T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020118.1,