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rs121909255

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909255(A;A)
Make rs121909255(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position47447859
GeneRAPSN
is asnp
is mentioned by
dbSNPrs121909255
ebirs121909255
HLIrs121909255
Exacrs121909255
Varsomers121909255
Maprs121909255
PheGenIrs121909255
hapmaprs121909255
1000 genomesrs121909255
hgdprs121909255
ensemblrs121909255
gopubmedrs121909255
geneviewrs121909255
scholarrs121909255
googlers121909255
pharmgkbrs121909255
gwascentralrs121909255
openSNPrs121909255
23andMers121909255
23andMe allrs121909255
SNP Nexus

SNPshotrs121909255
SNPdbers121909255
MSV3drs121909255
GWAS Ctlgrs121909255
Max Magnitude0
OMIM601592
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121909255(A;A)
Alt rs121909255(A;A)
Reference rs121909255(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene RAPSN
CLNDBN Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
Reversed 1
HGVS NC_000011.9:g.47469411C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008522.4,