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rs80356695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 4 Myotonia congenita; Thomsen's disease; quite variable in degree
(C;C) 0 common in clinvar


Make rs80356695(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position143339289
GeneCLCN1
is asnp
is mentioned by
dbSNPrs80356695
ebirs80356695
HLIrs80356695
Exacrs80356695
Varsomers80356695
Maprs80356695
PheGenIrs80356695
hapmaprs80356695
1000 genomesrs80356695
hgdprs80356695
ensemblrs80356695
gopubmedrs80356695
geneviewrs80356695
scholarrs80356695
googlers80356695
pharmgkbrs80356695
gwascentralrs80356695
openSNPrs80356695
23andMers80356695
23andMe allrs80356695
SNP Nexus

SNPshotrs80356695
SNPdbers80356695
MSV3drs80356695
GWAS Ctlgrs80356695
Max Magnitude4
ClinVar
Risk rs80356695(A;A)
Alt rs80356695(A;A)
Reference rs80356695(C;C)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143036382C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020100.1,