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rs80356689

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 rs80356689(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position143330775
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356689
ebirs80356689
HLIrs80356689
Exacrs80356689
Varsomers80356689
Maprs80356689
PheGenIrs80356689
hapmaprs80356689
1000 genomesrs80356689
hgdprs80356689
ensemblrs80356689
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scholarrs80356689
googlers80356689
pharmgkbrs80356689
gwascentralrs80356689
openSNPrs80356689
23andMers80356689
23andMe allrs80356689
SNP Nexus

SNPshotrs80356689
SNPdbers80356689
MSV3drs80356689
GWAS Ctlgrs80356689
Max Magnitude4
ClinVar
Risk rs80356689(C;C)
Alt rs80356689(C;C)
Reference rs80356689(T;T)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143027868T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020116.1,