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rs80356685

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 rs80356685(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position143321744
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356685
ebirs80356685
HLIrs80356685
Exacrs80356685
Varsomers80356685
Maprs80356685
PheGenIrs80356685
hapmaprs80356685
1000 genomesrs80356685
hgdprs80356685
ensemblrs80356685
gopubmedrs80356685
geneviewrs80356685
scholarrs80356685
googlers80356685
pharmgkbrs80356685
gwascentralrs80356685
openSNPrs80356685
23andMers80356685
23andMe allrs80356685
SNP Nexus

SNPshotrs80356685
SNPdbers80356685
MSV3drs80356685
GWAS Ctlgrs80356685
Max Magnitude4
ClinVar
Risk rs80356685(G;G)
Alt rs80356685(G;G)
Reference rs80356685(C;C)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143018837C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020112.1,