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rs121909509

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909509(A;A)
Make rs121909509(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position232527438
GeneCHRND
is asnp
is mentioned by
dbSNPrs121909509
ebirs121909509
HLIrs121909509
Exacrs121909509
Varsomers121909509
Maprs121909509
PheGenIrs121909509
hapmaprs121909509
1000 genomesrs121909509
hgdprs121909509
ensemblrs121909509
gopubmedrs121909509
geneviewrs121909509
scholarrs121909509
googlers121909509
pharmgkbrs121909509
gwascentralrs121909509
openSNPrs121909509
23andMers121909509
23andMe allrs121909509
SNP Nexus

SNPshotrs121909509
SNPdbers121909509
MSV3drs121909509
GWAS Ctlgrs121909509
Max Magnitude0
OMIM100720
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121909509(A,C;A,C)
Alt rs121909509(A,C;A,C)
Reference rs121909509(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.233392148T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020033.28,