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rs774843953

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs774843953(C;C)
Make rs774843953(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position143332755
GeneCLCN1
is asnp
is mentioned by
dbSNPrs774843953
ebirs774843953
HLIrs774843953
Exacrs774843953
Varsomers774843953
Maprs774843953
PheGenIrs774843953
hapmaprs774843953
1000 genomesrs774843953
hgdprs774843953
ensemblrs774843953
gopubmedrs774843953
geneviewrs774843953
scholarrs774843953
googlers774843953
pharmgkbrs774843953
gwascentralrs774843953
openSNPrs774843953
23andMers774843953
23andMe allrs774843953
SNP Nexus

SNPshotrs774843953
SNPdbers774843953
MSV3drs774843953
GWAS Ctlgrs774843953
Max Magnitude0
ClinVar
Risk rs774843953(C;C)
Alt rs774843953(C;C)
Reference rs774843953(T;T)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143029848T>C
CLNSRC
CLNACC RCV000193137.1,