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rs80356703

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
Position143331265
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356703
ebirs80356703
HLIrs80356703
Exacrs80356703
Varsomers80356703
Maprs80356703
PheGenIrs80356703
hapmaprs80356703
1000 genomesrs80356703
hgdprs80356703
ensemblrs80356703
gopubmedrs80356703
geneviewrs80356703
scholarrs80356703
googlers80356703
pharmgkbrs80356703
gwascentralrs80356703
openSNPrs80356703
23andMers80356703
23andMe allrs80356703
SNP Nexus

SNPshotrs80356703
SNPdbers80356703
MSV3drs80356703
GWAS Ctlgrs80356703
Max Magnitude6
ClinVar
Risk rs80356703(A;A)
Alt rs80356703(A;A)
Reference rs80356703(G;G)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143028358G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020098.1,