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rs80356693

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
Position143339263
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356693
ebirs80356693
HLIrs80356693
Exacrs80356693
Varsomers80356693
Maprs80356693
PheGenIrs80356693
hapmaprs80356693
1000 genomesrs80356693
hgdprs80356693
ensemblrs80356693
gopubmedrs80356693
geneviewrs80356693
scholarrs80356693
googlers80356693
pharmgkbrs80356693
gwascentralrs80356693
openSNPrs80356693
23andMers80356693
23andMe allrs80356693
SNP Nexus

SNPshotrs80356693
SNPdbers80356693
MSV3drs80356693
GWAS Ctlgrs80356693
Max Magnitude6
ClinVar
Risk rs80356693(T;T)
Alt rs80356693(T;T)
Reference rs80356693(C;C)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143036356C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020099.1,