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rs730880329

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880329(-;-)
Make rs730880329(-;GGCG)
Make rs730880329(GGCG;GGCG)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position419702
GeneRBCK1
is asnp
is mentioned by
dbSNPrs730880329
ebirs730880329
HLIrs730880329
Exacrs730880329
Varsomers730880329
Maprs730880329
PheGenIrs730880329
hapmaprs730880329
1000 genomesrs730880329
hgdprs730880329
ensemblrs730880329
gopubmedrs730880329
geneviewrs730880329
scholarrs730880329
googlers730880329
pharmgkbrs730880329
gwascentralrs730880329
openSNPrs730880329
23andMers730880329
23andMe allrs730880329
SNP Nexus

SNPshotrs730880329
SNPdbers730880329
MSV3drs730880329
GWAS Ctlgrs730880329
Max Magnitude0
ClinVar
Risk rs730880329(GGCG;GGCG)
Alt rs730880329(GGCG;GGCG)
Reference rs730880329(;)
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.400343_400346dupGGCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000128839.4,