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rs80356690

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 4 Myotonia congenita; Thomsen's disease; quite variable in degree
Make rs80356690(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position143330788
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356690
ebirs80356690
HLIrs80356690
Exacrs80356690
Varsomers80356690
Maprs80356690
PheGenIrs80356690
hapmaprs80356690
1000 genomesrs80356690
hgdprs80356690
ensemblrs80356690
gopubmedrs80356690
geneviewrs80356690
scholarrs80356690
googlers80356690
pharmgkbrs80356690
gwascentralrs80356690
openSNPrs80356690
23andMers80356690
23andMe allrs80356690
SNP Nexus

SNPshotrs80356690
SNPdbers80356690
MSV3drs80356690
GWAS Ctlgrs80356690
Merged fromRs121912804
Max Magnitude4

rs80356690 is a mutation in the CLCN1 gene on chromosome 7.

Acting in an autosomal dominant manner, the rs80356690(G) allele is considered to cause Thomsen's myotonia congenita; see also OMIM 118425.0008

Note that 23andMe refers to this SNP as i5003259.

OMIM118425
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80356690(G,T;G,T)
Alt rs80356690(G,T;G,T)
Reference rs80356690(C;C)
Significance Pathogenic
Disease Congenital myotonia Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Congenital myotonia, autosomal dominant form Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143027881C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019091.27, RCV000020117.1,


[PMID 7581380] Myotonia levior is a chloride channel disorder.