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rs797045032

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs797045032(GG;TC)
Make rs797045032(TC;TC)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position143321720
GeneCLCN1
is asnp
is mentioned by
dbSNPrs797045032
ClinGenrs797045032
ebirs797045032
HLIrs797045032
Exacrs797045032
Varsomers797045032
Maprs797045032
PheGenIrs797045032
hapmaprs797045032
1000 genomesrs797045032
hgdprs797045032
ensemblrs797045032
gopubmedrs797045032
geneviewrs797045032
scholarrs797045032
googlers797045032
pharmgkbrs797045032
gwascentralrs797045032
openSNPrs797045032
23andMers797045032
23andMe allrs797045032
SNP Nexus

SNPshotrs797045032
SNPdbers797045032
MSV3drs797045032
GWAS Ctlgrs797045032
Max Magnitude0
ClinVar
Risk rs797045032(TC;TC)
Alt rs797045032(TC;TC)
Reference Rs797045032(GG;GG)
Significance Pathogenic
Disease Congenital myotonia not provided
Variation info
Gene CLCN1
CLNDBN Congenital myotonia, autosomal recessive form not provided
Reversed 0
HGVS NC_000007.13:g.143018813_143018814delGGinsTC
CLNSRC Baylor College of Medicine
CLNACC RCV000191069.1, RCV000489144.1,