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rs886037842

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886037842(C;G)
Make rs886037842(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position47449163
GeneRAPSN
is asnp
is mentioned by
dbSNPrs886037842
dbSNP (classic)rs886037842
ClinGenrs886037842
ebirs886037842
HLIrs886037842
Exacrs886037842
Gnomadrs886037842
Varsomers886037842
LitVarrs886037842
Maprs886037842
PheGenIrs886037842
Biobankrs886037842
1000 genomesrs886037842
hgdprs886037842
ensemblrs886037842
geneviewrs886037842
scholarrs886037842
googlers886037842
pharmgkbrs886037842
gwascentralrs886037842
openSNPrs886037842
23andMers886037842
SNPshotrs886037842
SNPdbers886037842
MSV3drs886037842
GWAS Ctlgrs886037842
Max Magnitude0
ClinVar
Risk rs886037842(G;G)
Alt rs886037842(G;G)
Reference Rs886037842(C;C)
Significance Pathogenic
Disease Congenital myasthenic syndrome
Variation info
Gene RAPSN
CLNDBN Congenital myasthenic syndrome
Reversed 1
HGVS NC_000011.9:g.47470715G>C
CLNSRC
CLNACC RCV000235022.1,