Have questions? Visit https://www.reddit.com/r/SNPedia

rs727503763

From SNPedia

Orientationplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs727503763(-;-)
Make rs727503763(-;CT)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position409979
GeneRBCK1
is asnp
is mentioned by
dbSNPrs727503763
ebirs727503763
HLIrs727503763
Exacrs727503763
Varsomers727503763
Maprs727503763
PheGenIrs727503763
hapmaprs727503763
1000 genomesrs727503763
hgdprs727503763
ensemblrs727503763
gopubmedrs727503763
geneviewrs727503763
scholarrs727503763
googlers727503763
pharmgkbrs727503763
gwascentralrs727503763
openSNPrs727503763
23andMers727503763
23andMe allrs727503763
SNP Nexus

SNPshotrs727503763
SNPdbers727503763
MSV3drs727503763
GWAS Ctlgrs727503763
Max Magnitude0
ClinVar
Risk rs727503763(;)
Alt rs727503763(;)
Reference rs727503763(CT;CT)
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.390623_390624delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000128835.4,