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rs80356704

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
Position143341938
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356704
ebirs80356704
HLIrs80356704
Exacrs80356704
Varsomers80356704
Maprs80356704
PheGenIrs80356704
hapmaprs80356704
1000 genomesrs80356704
hgdprs80356704
ensemblrs80356704
gopubmedrs80356704
geneviewrs80356704
scholarrs80356704
googlers80356704
pharmgkbrs80356704
gwascentralrs80356704
openSNPrs80356704
23andMers80356704
23andMe allrs80356704
SNP Nexus

SNPshotrs80356704
SNPdbers80356704
MSV3drs80356704
GWAS Ctlgrs80356704
GMAF0.0004591
Max Magnitude6
ClinVar
Risk rs80356704(T;T)
Alt rs80356704(T;T)
Reference rs80356704(C;C)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143039031C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020102.1,