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rs587777561

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777561(C;T)
Make rs587777561(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position420904
GeneRBCK1
is asnp
is mentioned by
dbSNPrs587777561
ebirs587777561
HLIrs587777561
Exacrs587777561
Varsomers587777561
Maprs587777561
PheGenIrs587777561
hapmaprs587777561
1000 genomesrs587777561
hgdprs587777561
ensemblrs587777561
gopubmedrs587777561
geneviewrs587777561
scholarrs587777561
googlers587777561
pharmgkbrs587777561
gwascentralrs587777561
openSNPrs587777561
23andMers587777561
23andMe allrs587777561
SNP Nexus

SNPshotrs587777561
SNPdbers587777561
MSV3drs587777561
GWAS Ctlgrs587777561
Max Magnitude0
ClinVar
Risk rs587777561(T;T)
Alt rs587777561(T;T)
Reference rs587777561(C;C)
Significance Pathogenic
Disease Polyglucosan body myopathy 1 with or without immunodeficiency
Variation info
Gene RBCK1
CLNDBN Polyglucosan body myopathy 1 with or without immunodeficiency
Reversed 0
HGVS NC_000020.10:g.401548C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128840.5,