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rs121912805

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
Position143330789
GeneCLCN1
is asnp
is mentioned by
dbSNPrs121912805
ebirs121912805
HLIrs121912805
Exacrs121912805
Varsomers121912805
Maprs121912805
PheGenIrs121912805
hapmaprs121912805
1000 genomesrs121912805
hgdprs121912805
ensemblrs121912805
gopubmedrs121912805
geneviewrs121912805
scholarrs121912805
googlers121912805
pharmgkbrs121912805
gwascentralrs121912805
openSNPrs121912805
23andMers121912805
23andMe allrs121912805
SNP Nexus

SNPshotrs121912805
SNPdbers121912805
MSV3drs121912805
GWAS Ctlgrs121912805
Max Magnitude6

rs121912805, also known as c.871G>A or p.Glu291Lys, is a mutation in the CLCN1 gene on chromosome 7.

Acting in either an autosomal dominant or recessive manner, the rs121912805(A) allele is considered to cause myotonia congenita; see also OMIM 118425.0010

Note that 23andMe refers to this SNP as i5003258.

OMIM118425
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912805(A;A)
Alt rs121912805(A;A)
Reference rs121912805(G;G)
Significance Pathogenic
Disease Congenital myotonia
Variation info
Gene CLCN1
CLNDBN Congenital myotonia, autosomal recessive form
Reversed 0
HGVS NC_000007.13:g.143027882G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019093.23,