Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Myotonia congenita; quite variable in degree
(T;T) 6 Myotonia congenita; quite variable in degree
ReferenceGRCh38 38.1/141
Chromosome7
Position143320756
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356684
dbSNP (old)rs80356684
ClinGenrs80356684
ebirs80356684
HLIrs80356684
Exacrs80356684
Varsomers80356684
Maprs80356684
PheGenIrs80356684
Biobankrs80356684
1000 genomesrs80356684
hgdprs80356684
ensemblrs80356684
gopubmedrs80356684
geneviewrs80356684
scholarrs80356684
googlers80356684
pharmgkbrs80356684
gwascentralrs80356684
openSNPrs80356684
23andMers80356684
23andMe allrs80356684
SNP Nexus

SNPshotrs80356684
SNPdbers80356684
MSV3drs80356684
GWAS Ctlgrs80356684
Max Magnitude6
ClinVar
Risk Rs80356684(T;T)
Alt Rs80356684(T;T)
Reference Rs80356684(A;A)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143017849A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020110.1,