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rs121909503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909503(A;A)
Make rs121909503(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position232530131
GeneCHRND
is asnp
is mentioned by
dbSNPrs121909503
ebirs121909503
HLIrs121909503
Exacrs121909503
Varsomers121909503
Maprs121909503
PheGenIrs121909503
hapmaprs121909503
1000 genomesrs121909503
hgdprs121909503
ensemblrs121909503
gopubmedrs121909503
geneviewrs121909503
scholarrs121909503
googlers121909503
pharmgkbrs121909503
gwascentralrs121909503
openSNPrs121909503
23andMers121909503
23andMe allrs121909503
SNP Nexus

SNPshotrs121909503
SNPdbers121909503
MSV3drs121909503
GWAS Ctlgrs121909503
Max Magnitude0
OMIM100720
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909503(A;A)
Alt rs121909503(A;A)
Reference rs121909503(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRND
CLNDBN Myasthenic syndrome, congenital, 3b, fast-channel
Reversed 0
HGVS NC_000002.11:g.233394841C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020032.28,