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rs80356698

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;CTCA) 4 Myotonia congenita; Thomsen's disease; quite variable in degree
Make rs80356698(-;-)
Make rs80356698(CTCA;CTCA)
ReferenceGRCh38 38.1/141
Chromosome7
Position143350571
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356698
ebirs80356698
HLIrs80356698
Exacrs80356698
Varsomers80356698
Maprs80356698
PheGenIrs80356698
hapmaprs80356698
1000 genomesrs80356698
hgdprs80356698
ensemblrs80356698
gopubmedrs80356698
geneviewrs80356698
scholarrs80356698
googlers80356698
pharmgkbrs80356698
gwascentralrs80356698
openSNPrs80356698
23andMers80356698
23andMe allrs80356698
SNP Nexus

SNPshotrs80356698
SNPdbers80356698
MSV3drs80356698
GWAS Ctlgrs80356698
Max Magnitude4
ClinVar
Risk rs80356698(CTCA;CTCA)
Alt rs80356698(CTCA;CTCA)
Reference rs80356698(;)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143047664_143047665insCTCA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020106.1,