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rs762754992

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs762754992(C;T)
Make rs762754992(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position143341995
GeneCLCN1
is asnp
is mentioned by
dbSNPrs762754992
ebirs762754992
HLIrs762754992
Exacrs762754992
Varsomers762754992
Maprs762754992
PheGenIrs762754992
hapmaprs762754992
1000 genomesrs762754992
hgdprs762754992
ensemblrs762754992
gopubmedrs762754992
geneviewrs762754992
scholarrs762754992
googlers762754992
pharmgkbrs762754992
gwascentralrs762754992
openSNPrs762754992
23andMers762754992
23andMe allrs762754992
SNP Nexus

SNPshotrs762754992
SNPdbers762754992
MSV3drs762754992
GWAS Ctlgrs762754992
Max Magnitude0
ClinVar
Risk rs762754992(T;T)
Alt rs762754992(T;T)
Reference rs762754992(C;C)
Significance Pathogenic
Disease Myotonia congenita
Variation info
Gene CLCN1
CLNDBN Myotonia congenita
Reversed 0
HGVS NC_000007.13:g.143039088C>T
CLNSRC
CLNACC RCV000194136.1,