{{Rsnum
|rsid=104894299
|Gene=RAPSN
|Chromosome=11
|position=47448079
|Orientation=minus
|GMAF=0.001377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=RAPSN
}}{{omim
|id=601592
|rsnum=104894299
|variant=0001
}}{{ClinVar
|rsid=104894299
|Reversed=1
|FwdREF=C
|FwdALT=A
|REF=G
|ALT=T
|RSPOS=47469631
|CHROM=11
|GMAF=0.0014
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000040016110100
|GENEINFO=RAPSN:5913
|GENE_NAME=RAPSN
|GENE_ID=5913
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.47469631G>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601592.0001
|CLNSIG=5
|CLNCUI=C1837091
|CLNDBN=Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
|Disease=Myasthenic syndrome
|CLNACC=RCV000008512.2
|Tags=RV;PM;S3D;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9986; 0.001377
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1168:C1837091:608931:590
|COMMON=0
}}