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rs121909502

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909502(C;T)
Make rs121909502(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position232531397
GeneCHRND
is asnp
is mentioned by
dbSNPrs121909502
ebirs121909502
HLIrs121909502
Exacrs121909502
Varsomers121909502
Maprs121909502
PheGenIrs121909502
hapmaprs121909502
1000 genomesrs121909502
hgdprs121909502
ensemblrs121909502
gopubmedrs121909502
geneviewrs121909502
scholarrs121909502
googlers121909502
pharmgkbrs121909502
gwascentralrs121909502
openSNPrs121909502
23andMers121909502
23andMe allrs121909502
SNP Nexus

SNPshotrs121909502
SNPdbers121909502
MSV3drs121909502
GWAS Ctlgrs121909502
Max Magnitude0
OMIM100720
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909502(T;T)
Alt rs121909502(T;T)
Reference rs121909502(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRND
CLNDBN Myasthenic syndrome, congenital, 3a, slow-channel
Reversed 0
HGVS NC_000002.11:g.233396107C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020031.27,