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rs730880330

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880330(-;-)
Make rs730880330(-;GACGAGG)
Make rs730880330(GACGAGG;GACGAGG)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position419678
GeneRBCK1
is asnp
is mentioned by
dbSNPrs730880330
ebirs730880330
HLIrs730880330
Exacrs730880330
Varsomers730880330
Maprs730880330
PheGenIrs730880330
hapmaprs730880330
1000 genomesrs730880330
hgdprs730880330
ensemblrs730880330
gopubmedrs730880330
geneviewrs730880330
scholarrs730880330
googlers730880330
pharmgkbrs730880330
gwascentralrs730880330
openSNPrs730880330
23andMers730880330
23andMe allrs730880330
SNP Nexus

SNPshotrs730880330
SNPdbers730880330
MSV3drs730880330
GWAS Ctlgrs730880330
Max Magnitude0
ClinVar
Risk rs730880330(GACGAGG;GACGAGG)
Alt rs730880330(GACGAGG;GACGAGG)
Reference rs730880330(;)
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.400316_400322dupGACGAGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000128841.5,