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rs80356691

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Myotonia congenita; Thomsen's disease; quite variable in degree
Make rs80356691(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position143330847
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356691
ebirs80356691
HLIrs80356691
Exacrs80356691
Varsomers80356691
Maprs80356691
PheGenIrs80356691
hapmaprs80356691
1000 genomesrs80356691
hgdprs80356691
ensemblrs80356691
gopubmedrs80356691
geneviewrs80356691
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googlers80356691
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openSNPrs80356691
23andMers80356691
23andMe allrs80356691
SNP Nexus

SNPshotrs80356691
SNPdbers80356691
MSV3drs80356691
GWAS Ctlgrs80356691
Max Magnitude4
ClinVar
Risk rs80356691(T;T)
Alt rs80356691(T;T)
Reference Rs80356691(C;C)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143027940C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020119.1,