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rs786200905

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786200905(A;G)
Make rs786200905(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47449174
GeneRAPSN
is asnp
is mentioned by
dbSNPrs786200905
ebirs786200905
HLIrs786200905
Exacrs786200905
Varsomers786200905
Maprs786200905
PheGenIrs786200905
hapmaprs786200905
1000 genomesrs786200905
hgdprs786200905
ensemblrs786200905
gopubmedrs786200905
geneviewrs786200905
scholarrs786200905
googlers786200905
pharmgkbrs786200905
gwascentralrs786200905
openSNPrs786200905
23andMers786200905
23andMe allrs786200905
SNP Nexus

SNPshotrs786200905
SNPdbers786200905
MSV3drs786200905
GWAS Ctlgrs786200905
Max Magnitude0
ClinVar
Risk rs786200905(G;G)
Alt rs786200905(G;G)
Reference rs786200905(A;A)
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.47470726T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008517.5,