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rs80356707

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356707(-;-)
Make rs80356707(-;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position143346624
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356707
ebirs80356707
HLIrs80356707
Exacrs80356707
Varsomers80356707
Maprs80356707
PheGenIrs80356707
hapmaprs80356707
1000 genomesrs80356707
hgdprs80356707
ensemblrs80356707
gopubmedrs80356707
geneviewrs80356707
scholarrs80356707
googlers80356707
pharmgkbrs80356707
gwascentralrs80356707
openSNPrs80356707
23andMers80356707
23andMe allrs80356707
SNP Nexus

SNPshotrs80356707
SNPdbers80356707
MSV3drs80356707
GWAS Ctlgrs80356707
Max Magnitude0
ClinVar
Risk rs80356707(;)
Alt rs80356707(;)
Reference rs80356707(G;G)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143043717delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020105.1,


[PMID 16629771] Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita.


[PMID 17097617] Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression.