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rs727503765

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503765(G;T)
Make rs727503765(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position419702
GeneRBCK1
is asnp
is mentioned by
dbSNPrs727503765
ebirs727503765
HLIrs727503765
Exacrs727503765
Varsomers727503765
Maprs727503765
PheGenIrs727503765
hapmaprs727503765
1000 genomesrs727503765
hgdprs727503765
ensemblrs727503765
gopubmedrs727503765
geneviewrs727503765
scholarrs727503765
googlers727503765
pharmgkbrs727503765
gwascentralrs727503765
openSNPrs727503765
23andMers727503765
23andMe allrs727503765
SNP Nexus

SNPshotrs727503765
SNPdbers727503765
MSV3drs727503765
GWAS Ctlgrs727503765
Max Magnitude0
ClinVar
Risk rs727503765(T;T)
Alt rs727503765(T;T)
Reference rs727503765(G;G)
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.400346G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128838.5,