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rs80356697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Myotonia congenita; quite variable in degree
(A;T) 3 Myotonia congenita; quite variable in degree
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position143342013
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356697
ebirs80356697
HLIrs80356697
Exacrs80356697
Varsomers80356697
Maprs80356697
PheGenIrs80356697
hapmaprs80356697
1000 genomesrs80356697
hgdprs80356697
ensemblrs80356697
gopubmedrs80356697
geneviewrs80356697
scholarrs80356697
googlers80356697
pharmgkbrs80356697
gwascentralrs80356697
openSNPrs80356697
23andMers80356697
23andMe allrs80356697
SNP Nexus

SNPshotrs80356697
SNPdbers80356697
MSV3drs80356697
GWAS Ctlgrs80356697
Max Magnitude6
ClinVar
Risk rs80356697(A;A)
Alt rs80356697(A;A)
Reference rs80356697(T;T)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143039106T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020104.1,