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rs786205885

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786205885(-;-)
Make rs786205885(-;CT)
Make rs786205885(CT;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47438813
GeneRAPSN
is asnp
is mentioned by
dbSNPrs786205885
ebirs786205885
HLIrs786205885
Exacrs786205885
Varsomers786205885
Maprs786205885
PheGenIrs786205885
hapmaprs786205885
1000 genomesrs786205885
hgdprs786205885
ensemblrs786205885
gopubmedrs786205885
geneviewrs786205885
scholarrs786205885
googlers786205885
pharmgkbrs786205885
gwascentralrs786205885
openSNPrs786205885
23andMers786205885
23andMe allrs786205885
SNP Nexus

SNPshotrs786205885
SNPdbers786205885
MSV3drs786205885
GWAS Ctlgrs786205885
Max Magnitude0
ClinVar
Risk rs786205885(CT;CT)
Alt rs786205885(CT;CT)
Reference rs786205885(;)
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.47460365_47460366dupAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000170473.3,