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rs1057518917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518917(C;T)
Make rs1057518917(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position143351633
GeneCLCN1
is asnp
is mentioned by
dbSNPrs1057518917
dbSNP (old)rs1057518917
ClinGenrs1057518917
ebirs1057518917
HLIrs1057518917
Exacrs1057518917
Gnomadrs1057518917
Varsomers1057518917
LitVarrs1057518917
Maprs1057518917
PheGenIrs1057518917
Biobankrs1057518917
1000 genomesrs1057518917
hgdprs1057518917
ensemblrs1057518917
gopubmedrs1057518917
geneviewrs1057518917
scholarrs1057518917
googlers1057518917
pharmgkbrs1057518917
gwascentralrs1057518917
openSNPrs1057518917
23andMers1057518917
23andMe allrs1057518917
SNPshotrs1057518917
SNPdbers1057518917
MSV3drs1057518917
GWAS Ctlgrs1057518917
Max Magnitude0
ClinVar
Risk rs1057518917(T;T)
Alt rs1057518917(T;T)
Reference Rs1057518917(C;C)
Significance Pathogenic
Disease Myotonia
Variation info
Gene CLCN1
CLNDBN Myotonia
Reversed 0
HGVS NC_000007.13:g.143048726C>T
CLNSRC
CLNACC RCV000415403.1,