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rs121909508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909508(C;C)
Make rs121909508(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position232526664
GeneCHRND
is asnp
is mentioned by
dbSNPrs121909508
ebirs121909508
HLIrs121909508
Exacrs121909508
Varsomers121909508
Maprs121909508
PheGenIrs121909508
hapmaprs121909508
1000 genomesrs121909508
hgdprs121909508
ensemblrs121909508
gopubmedrs121909508
geneviewrs121909508
scholarrs121909508
googlers121909508
pharmgkbrs121909508
gwascentralrs121909508
openSNPrs121909508
23andMers121909508
23andMe allrs121909508
SNP Nexus

SNPshotrs121909508
SNPdbers121909508
MSV3drs121909508
GWAS Ctlgrs121909508
Max Magnitude0
OMIM100720
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121909508(C;C)
Alt rs121909508(C;C)
Reference rs121909508(T;T)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRND
CLNDBN Myasthenic syndrome, congenital, 3b, fast-channel
Reversed 0
HGVS NC_000002.11:g.233391374T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000020039.27,