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rs727503762

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503762(C;T)
Make rs727503762(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position419439
GeneRBCK1
is asnp
is mentioned by
dbSNPrs727503762
ebirs727503762
HLIrs727503762
Exacrs727503762
Varsomers727503762
Maprs727503762
PheGenIrs727503762
hapmaprs727503762
1000 genomesrs727503762
hgdprs727503762
ensemblrs727503762
gopubmedrs727503762
geneviewrs727503762
scholarrs727503762
googlers727503762
pharmgkbrs727503762
gwascentralrs727503762
openSNPrs727503762
23andMers727503762
23andMe allrs727503762
SNP Nexus

SNPshotrs727503762
SNPdbers727503762
MSV3drs727503762
GWAS Ctlgrs727503762
Max Magnitude0
ClinVar
Risk rs727503762(T;T)
Alt rs727503762(T;T)
Reference rs727503762(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.400083C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128834.4,