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rs121909254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909254(A;A)
Make rs121909254(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position47448832
GeneRAPSN
is asnp
is mentioned by
dbSNPrs121909254
ClinGenrs121909254
ebirs121909254
HLIrs121909254
Exacrs121909254
Varsomers121909254
Maprs121909254
PheGenIrs121909254
hapmaprs121909254
1000 genomesrs121909254
hgdprs121909254
ensemblrs121909254
gopubmedrs121909254
geneviewrs121909254
scholarrs121909254
googlers121909254
pharmgkbrs121909254
gwascentralrs121909254
openSNPrs121909254
23andMers121909254
23andMe allrs121909254
SNP Nexus

SNPshotrs121909254
SNPdbers121909254
MSV3drs121909254
GWAS Ctlgrs121909254
Max Magnitude0
OMIM601592
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121909254(A;A) rs121909254(C;C) rs121909254(T;T)
Alt rs121909254(A;A) rs121909254(C;C) rs121909254(T;T)
Reference Rs121909254(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.47470384C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008521.4,