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rs121912799

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 6 Myotonia congenita; quite variable in degree
(G;T) 2.5 carrier of a myotonia congenita allele; variable in degree
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position143332490
GeneCLCN1
is asnp
is mentioned by
dbSNPrs121912799
ebirs121912799
HLIrs121912799
Exacrs121912799
Varsomers121912799
Maprs121912799
PheGenIrs121912799
hapmaprs121912799
1000 genomesrs121912799
hgdprs121912799
ensemblrs121912799
gopubmedrs121912799
geneviewrs121912799
scholarrs121912799
googlers121912799
pharmgkbrs121912799
gwascentralrs121912799
openSNPrs121912799
23andMers121912799
23andMe allrs121912799
SNP Nexus

SNPshotrs121912799
SNPdbers121912799
MSV3drs121912799
GWAS Ctlgrs121912799
Max Magnitude6
OMIM118425
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912799(G;G)
Alt rs121912799(G;G)
Reference rs121912799(T;T)
Significance Pathogenic
Disease Congenital myotonia Congenital myotonia
Variation info
Gene CLCN1
CLNDBN Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form
Reversed 0
HGVS NC_000007.13:g.143029583T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019083.27, RCV000184008.1,