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rs121912810

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Myotonia congenita; Thomsen's disease; quite variable in degree
Make rs121912810(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position143321718
GeneCLCN1
is asnp
is mentioned by
dbSNPrs121912810
ebirs121912810
HLIrs121912810
Exacrs121912810
Varsomers121912810
Maprs121912810
PheGenIrs121912810
hapmaprs121912810
1000 genomesrs121912810
hgdprs121912810
ensemblrs121912810
gopubmedrs121912810
geneviewrs121912810
scholarrs121912810
googlers121912810
pharmgkbrs121912810
gwascentralrs121912810
openSNPrs121912810
23andMers121912810
23andMe allrs121912810
SNP Nexus

SNPshotrs121912810
SNPdbers121912810
MSV3drs121912810
GWAS Ctlgrs121912810
Max Magnitude4

rs121912810, also known as p.Ser189Phe, is a mutation in the CLCN1 gene on chromosome 7.

Acting in an autosomal dominant manner, the rs121912810(T) allele is considered to cause Thomsen's myotonia congenita; see also OMIM 118425.0018

Note that 23andMe refers to this SNP as i5003253.

OMIM118425
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121912810(T;T)
Alt rs121912810(T;T)
Reference rs121912810(C;C)
Significance Pathogenic
Disease Congenital myotonia
Variation info
Gene CLCN1
CLNDBN Congenital myotonia, autosomal dominant form
Reversed 0
HGVS NC_000007.13:g.143018811C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019102.23,