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rs566912235

From SNPedia

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Geno Mag Summary
(A;A) 0 common in clinvar
Make rs566912235(A;G)
Make rs566912235(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position427443
GeneRBCK1
is asnp
is mentioned by
dbSNPrs566912235
ebirs566912235
HLIrs566912235
Exacrs566912235
Varsomers566912235
Maprs566912235
PheGenIrs566912235
hapmaprs566912235
1000 genomesrs566912235
hgdprs566912235
ensemblrs566912235
gopubmedrs566912235
geneviewrs566912235
scholarrs566912235
googlers566912235
pharmgkbrs566912235
gwascentralrs566912235
openSNPrs566912235
23andMers566912235
23andMe allrs566912235
SNP Nexus

SNPshotrs566912235
SNPdbers566912235
MSV3drs566912235
GWAS Ctlgrs566912235
Max Magnitude0
ClinVar
Risk rs566912235(G;G)
Alt rs566912235(G;G)
Reference rs566912235(A;A)
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.408087A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000128837.4,