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rs80356688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Myotonia congenita; quite variable in degree
(T;T) 6 Myotonia congenita; quite variable in degree
ReferenceGRCh38 38.1/141
Chromosome7
Position143324486
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356688
ebirs80356688
HLIrs80356688
Exacrs80356688
Varsomers80356688
Maprs80356688
PheGenIrs80356688
hapmaprs80356688
1000 genomesrs80356688
hgdprs80356688
ensemblrs80356688
gopubmedrs80356688
geneviewrs80356688
scholarrs80356688
googlers80356688
pharmgkbrs80356688
gwascentralrs80356688
openSNPrs80356688
23andMers80356688
23andMe allrs80356688
SNP Nexus

SNPshotrs80356688
SNPdbers80356688
MSV3drs80356688
GWAS Ctlgrs80356688
Max Magnitude6
ClinVar
Risk rs80356688(T;T)
Alt rs80356688(T;T)
Reference rs80356688(C;C)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143021579C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020115.1,