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rs80356686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Myotonia congenita; Thomsen's disease; quite variable in degree
(G;G) 0 common in clinvar


Make rs80356686(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position143321729
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356686
ebirs80356686
HLIrs80356686
Exacrs80356686
Varsomers80356686
Maprs80356686
PheGenIrs80356686
hapmaprs80356686
1000 genomesrs80356686
hgdprs80356686
ensemblrs80356686
gopubmedrs80356686
geneviewrs80356686
scholarrs80356686
googlers80356686
pharmgkbrs80356686
gwascentralrs80356686
openSNPrs80356686
23andMers80356686
23andMe allrs80356686
SNP Nexus

SNPshotrs80356686
SNPdbers80356686
MSV3drs80356686
GWAS Ctlgrs80356686
Max Magnitude4
ClinVar
Risk rs80356686(A;A)
Alt rs80356686(A;A)
Reference rs80356686(G;G)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143018822G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020111.1,