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rs121909504

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909504(A;A)
Make rs121909504(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position232527440
GeneCHRND
is asnp
is mentioned by
dbSNPrs121909504
ebirs121909504
HLIrs121909504
Exacrs121909504
Varsomers121909504
Maprs121909504
PheGenIrs121909504
hapmaprs121909504
1000 genomesrs121909504
hgdprs121909504
ensemblrs121909504
gopubmedrs121909504
geneviewrs121909504
scholarrs121909504
googlers121909504
pharmgkbrs121909504
gwascentralrs121909504
openSNPrs121909504
23andMers121909504
23andMe allrs121909504
SNP Nexus

SNPshotrs121909504
SNPdbers121909504
MSV3drs121909504
GWAS Ctlgrs121909504
Max Magnitude0
OMIM100720
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909504(A;A)
Alt rs121909504(A;A)
Reference rs121909504(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRND
CLNDBN Myasthenic syndrome, congenital, 3b, fast-channel
Reversed 0
HGVS NC_000002.11:g.233392150G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020034.27,