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rs80356692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Myotonia congenita; quite variable in degree
(A;G) 3 Myotonia congenita; quite variable in degree
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position143330855
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356692
ClinGenrs80356692
ebirs80356692
HLIrs80356692
Exacrs80356692
Varsomers80356692
Maprs80356692
PheGenIrs80356692
hapmaprs80356692
1000 genomesrs80356692
hgdprs80356692
ensemblrs80356692
gopubmedrs80356692
geneviewrs80356692
scholarrs80356692
googlers80356692
pharmgkbrs80356692
gwascentralrs80356692
openSNPrs80356692
23andMers80356692
23andMe allrs80356692
SNP Nexus

SNPshotrs80356692
SNPdbers80356692
MSV3drs80356692
GWAS Ctlgrs80356692
Max Magnitude6
ClinVar
Risk Rs80356692(A;A)
Alt Rs80356692(A;A)
Reference Rs80356692(G;G)
Significance Pathogenic
Disease Myotonia congenita not provided
Variation info
Gene CLCN1
CLNDBN Myotonia congenita not provided
Reversed 0
HGVS NC_000007.13:g.143027948G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000020120.1, RCV000224894.1,