Have questions? Visit https://www.reddit.com/r/SNPedia

rs767209392

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs767209392(A;A)
Make rs767209392(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position143350637
GeneCLCN1
is asnp
is mentioned by
dbSNPrs767209392
ebirs767209392
HLIrs767209392
Exacrs767209392
Varsomers767209392
Maprs767209392
PheGenIrs767209392
hapmaprs767209392
1000 genomesrs767209392
hgdprs767209392
ensemblrs767209392
gopubmedrs767209392
geneviewrs767209392
scholarrs767209392
googlers767209392
pharmgkbrs767209392
gwascentralrs767209392
openSNPrs767209392
23andMers767209392
23andMe allrs767209392
SNP Nexus

SNPshotrs767209392
SNPdbers767209392
MSV3drs767209392
GWAS Ctlgrs767209392
Max Magnitude0
ClinVar
Risk rs767209392(A;A)
Alt rs767209392(A;A)
Reference rs767209392(G;G)
Significance Probable-Pathogenic
Disease Congenital myotonia
Variation info
Gene CLCN1
CLNDBN Congenital myotonia, autosomal dominant form
Reversed 0
HGVS NC_000007.13:g.143047730G>A
CLNSRC
CLNACC RCV000184022.2,