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rs121912807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Myotonia congenita; quite variable in degree
(A;G) 2.5 carrier of a myotonia congenita allele; variable in degree
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position143339534
GeneCLCN1
is asnp
is mentioned by
dbSNPrs121912807
ebirs121912807
HLIrs121912807
Exacrs121912807
Varsomers121912807
Maprs121912807
PheGenIrs121912807
hapmaprs121912807
1000 genomesrs121912807
hgdprs121912807
ensemblrs121912807
gopubmedrs121912807
geneviewrs121912807
scholarrs121912807
googlers121912807
pharmgkbrs121912807
gwascentralrs121912807
openSNPrs121912807
23andMers121912807
23andMe allrs121912807
SNP Nexus

SNPshotrs121912807
SNPdbers121912807
MSV3drs121912807
GWAS Ctlgrs121912807
Max Magnitude6
OMIM118425
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121912807(A;A)
Alt rs121912807(A;A)
Reference rs121912807(G;G)
Significance Pathogenic
Disease Congenital myotonia
Variation info
Gene CLCN1
CLNDBN Congenital myotonia, autosomal recessive form
Reversed 0
HGVS NC_000007.13:g.143036627G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019096.27,