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rs786200904

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786200904(-;-)
Make rs786200904(-;GTTCT)
Make rs786200904(GTTCT;GTTCT)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47442792
GeneRAPSN
is asnp
is mentioned by
dbSNPrs786200904
ebirs786200904
HLIrs786200904
Exacrs786200904
Varsomers786200904
Maprs786200904
PheGenIrs786200904
hapmaprs786200904
1000 genomesrs786200904
hgdprs786200904
ensemblrs786200904
gopubmedrs786200904
geneviewrs786200904
scholarrs786200904
googlers786200904
pharmgkbrs786200904
gwascentralrs786200904
openSNPrs786200904
23andMers786200904
23andMe allrs786200904
SNP Nexus

SNPshotrs786200904
SNPdbers786200904
MSV3drs786200904
GWAS Ctlgrs786200904
Max Magnitude0
ClinVar
Risk rs786200904(GTTCT;GTTCT)
Alt rs786200904(GTTCT;GTTCT)
Reference rs786200904(;)
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.47464345_47464349dupAGAAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000008514.4,