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rs121912801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 2.5 carrier of a myotonia congenita allele; variable in degree
(T;T) 6 Myotonia congenita; quite variable in degree
ReferenceGRCh38 38.1/141
Chromosome7
Position143339527
GeneCLCN1
is asnp
is mentioned by
dbSNPrs121912801
ebirs121912801
HLIrs121912801
Exacrs121912801
Varsomers121912801
Maprs121912801
PheGenIrs121912801
hapmaprs121912801
1000 genomesrs121912801
hgdprs121912801
ensemblrs121912801
gopubmedrs121912801
geneviewrs121912801
scholarrs121912801
googlers121912801
pharmgkbrs121912801
gwascentralrs121912801
openSNPrs121912801
23andMers121912801
23andMe allrs121912801
SNP Nexus

SNPshotrs121912801
SNPdbers121912801
MSV3drs121912801
GWAS Ctlgrs121912801
Max Magnitude6
OMIM118425
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912801(T;T)
Alt rs121912801(T;T)
Reference rs121912801(G;G)
Significance Pathogenic
Disease Congenital myotonia
Variation info
Gene CLCN1
CLNDBN Congenital myotonia, autosomal recessive form
Reversed 0
HGVS NC_000007.13:g.143036620G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019087.24,