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rs149729531

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149729531(C;G)
Make rs149729531(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position143321432
GeneCLCN1
is asnp
is mentioned by
dbSNPrs149729531
dbSNP (old)rs149729531
ClinGenrs149729531
ebirs149729531
HLIrs149729531
Exacrs149729531
Gnomadrs149729531
Varsomers149729531
Maprs149729531
PheGenIrs149729531
Biobankrs149729531
1000 genomesrs149729531
hgdprs149729531
ensemblrs149729531
gopubmedrs149729531
geneviewrs149729531
scholarrs149729531
googlers149729531
pharmgkbrs149729531
gwascentralrs149729531
openSNPrs149729531
23andMers149729531
23andMe allrs149729531
SNP Nexus

SNPshotrs149729531
SNPdbers149729531
MSV3drs149729531
GWAS Ctlgrs149729531
Max Magnitude0
ClinVar
Risk rs149729531(G;G)
Alt rs149729531(G;G)
Reference Rs149729531(C;C)
Significance Pathogenic
Disease Congenital myotonia Congenital myotonia Myotonia congenita Myotonia not specified
Variation info
Gene CLCN1
CLNDBN Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Myotonia congenita Myotonia not specified
Reversed 0
HGVS NC_000007.13:g.143018525C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000191068.1, RCV000191070.1, RCV000343760.1, RCV000415172.1, RCV000479583.1,