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rs776073429

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs776073429(A;A)
Make rs776073429(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome7
Position143323387
GeneCLCN1
is asnp
is mentioned by
dbSNPrs776073429
dbSNP (classic)rs776073429
ClinGenrs776073429
ebirs776073429
HLIrs776073429
Exacrs776073429
Gnomadrs776073429
Varsomers776073429
LitVarrs776073429
Maprs776073429
PheGenIrs776073429
Biobankrs776073429
1000 genomesrs776073429
hgdprs776073429
ensemblrs776073429
geneviewrs776073429
scholarrs776073429
googlers776073429
pharmgkbrs776073429
gwascentralrs776073429
openSNPrs776073429
23andMers776073429
SNPshotrs776073429
SNPdbers776073429
MSV3drs776073429
GWAS Ctlgrs776073429
Max Magnitude0
ClinVar
Risk rs776073429(A;A)
Alt rs776073429(A;A)
Reference Rs776073429(G;G)
Significance Pathogenic
Disease not provided Myotonia congenita
Variation info
Gene CLCN1
CLNDBN not provided Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143020480G>A
CLNSRC Illumina
CLNACC RCV000254934.1, RCV000305146.1,